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<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein Hepatocyte nuclear factor-6 and a disease type II diabetes in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[Hepatocyte nuclear factor-6,GeneOrGeneProduct]' and '[type II diabetes,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion. - Abstract of the Paper: [The transcription factor hepatocyte nuclear factor (HNF)-6 is an upstream regulator of several genes involved in the pathogenesis of maturity-onset diabetes of the young. We therefore tested the hypothesis that variability in the HNF-6 gene is associated with subsets of Type II (non-insulin-dependent) diabetes mellitus and estimates of insulin secretion in glucose tolerant subjects. We cloned the coding region as well as the intron-exon boundaries of the HNF-6 gene. We then examined them on genomic DNA in six MODY probands without mutations in the MODY1, MODY3 and MODY4 genes and in 54 patients with late-onset Type II diabetes by combined single strand conformational polymorphism-heteroduplex analysis followed by direct sequencing of identified variants. An identified missense variant was examined in association studies and genotype-phenotype studies. We identified two silent and one missense (Pro75 Ala) variant. In an association study the allelic frequency of the Pro75Ala polymorphism was 3.2% (95% confidence interval, 1.9-4.5) in 330 patients with Type II diabetes mellitus compared with 4.2% (2.4-6.0) in 238 age-matched glucose tolerant control subjects. Moreover, in studies of 238 middle-aged glucose tolerant subjects, of 226 glucose tolerant offspring of Type II diabetic patients and of 367 young healthy subjects, the carriers of the polymorphism did not differ from non-carriers in glucose induced serum insulin or C-peptide responses. Mutations in the coding region of the HNF-6 gene are not associated with Type II diabetes or with changes in insulin responses to glucose among the Caucasians examined.] Identify how '[Hepatocyte nuclear factor-6,GeneOrGeneProduct]' and '[type II diabetes,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion.
The transcription factor hepatocyte nuclear factor (HNF)-6 is an upstream regulator of several genes involved in the pathogenesis of maturity-onset diabetes of the young. We therefore tested the hypothesis that variability in the HNF-6 gene is associated with subsets of Type II (non-insulin-dependent) diabetes mellitus and estimates of insulin secretion in glucose tolerant subjects. We cloned the coding region as well as the intron-exon boundaries of the HNF-6 gene. We then examined them on genomic DNA in six MODY probands without mutations in the MODY1, MODY3 and MODY4 genes and in 54 patients with late-onset Type II diabetes by combined single strand conformational polymorphism-heteroduplex analysis followed by direct sequencing of identified variants. An identified missense variant was examined in association studies and genotype-phenotype studies. We identified two silent and one missense (Pro75 Ala) variant. In an association study the allelic frequency of the Pro75Ala polymorphism was 3.2% (95% confidence interval, 1.9-4.5) in 330 patients with Type II diabetes mellitus compared with 4.2% (2.4-6.0) in 238 age-matched glucose tolerant control subjects. Moreover, in studies of 238 middle-aged glucose tolerant subjects, of 226 glucose tolerant offspring of Type II diabetic patients and of 367 young healthy subjects, the carriers of the polymorphism did not differ from non-carriers in glucose induced serum insulin or C-peptide responses. Mutations in the coding region of the HNF-6 gene are not associated with Type II diabetes or with changes in insulin responses to glucose among the Caucasians examined.
{ "name": "Hepatocyte nuclear factor-6", "type": "GeneOrGeneProduct" }
{ "name": "type II diabetes", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical glucose and a gene or protein insulin in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a chemical leads to higher gene expression, or higher gene expression increases sensitivity to the chemical, or a gene variant exacerbates the chemical's side effects, or a gene causes an over-response to the chemical, or there is a positive interaction between two genes in any manner. 'Negative_Correlation' indicates that a chemical leads to reduced gene expression, or higher gene expression results in decreased sensitivity or resistance to the chemical, or a gene variant offers protection against the chemical's adverse effects, or a gene contributes to resistance against the chemical, or there exists a negative interaction between two genes in any form. 'Bind' means that a chemical either connects to a gene's promoter region or a protein acts as a receptor for that chemical. 'Association' is used to describe relation that don't clearly fall under categories like positive correlation, negative correlation and bind , or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[glucose,ChemicalEntity]' and '[insulin,GeneOrGeneProduct]'. - Title of the Paper: Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion. - Abstract of the Paper: [The transcription factor hepatocyte nuclear factor (HNF)-6 is an upstream regulator of several genes involved in the pathogenesis of maturity-onset diabetes of the young. We therefore tested the hypothesis that variability in the HNF-6 gene is associated with subsets of Type II (non-insulin-dependent) diabetes mellitus and estimates of insulin secretion in glucose tolerant subjects. We cloned the coding region as well as the intron-exon boundaries of the HNF-6 gene. We then examined them on genomic DNA in six MODY probands without mutations in the MODY1, MODY3 and MODY4 genes and in 54 patients with late-onset Type II diabetes by combined single strand conformational polymorphism-heteroduplex analysis followed by direct sequencing of identified variants. An identified missense variant was examined in association studies and genotype-phenotype studies. We identified two silent and one missense (Pro75 Ala) variant. In an association study the allelic frequency of the Pro75Ala polymorphism was 3.2% (95% confidence interval, 1.9-4.5) in 330 patients with Type II diabetes mellitus compared with 4.2% (2.4-6.0) in 238 age-matched glucose tolerant control subjects. Moreover, in studies of 238 middle-aged glucose tolerant subjects, of 226 glucose tolerant offspring of Type II diabetic patients and of 367 young healthy subjects, the carriers of the polymorphism did not differ from non-carriers in glucose induced serum insulin or C-peptide responses. Mutations in the coding region of the HNF-6 gene are not associated with Type II diabetes or with changes in insulin responses to glucose among the Caucasians examined.] Identify how '[glucose,ChemicalEntity]' and '[insulin,GeneOrGeneProduct]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. [/INST]Positive_Correlation</s>
Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion.
The transcription factor hepatocyte nuclear factor (HNF)-6 is an upstream regulator of several genes involved in the pathogenesis of maturity-onset diabetes of the young. We therefore tested the hypothesis that variability in the HNF-6 gene is associated with subsets of Type II (non-insulin-dependent) diabetes mellitus and estimates of insulin secretion in glucose tolerant subjects. We cloned the coding region as well as the intron-exon boundaries of the HNF-6 gene. We then examined them on genomic DNA in six MODY probands without mutations in the MODY1, MODY3 and MODY4 genes and in 54 patients with late-onset Type II diabetes by combined single strand conformational polymorphism-heteroduplex analysis followed by direct sequencing of identified variants. An identified missense variant was examined in association studies and genotype-phenotype studies. We identified two silent and one missense (Pro75 Ala) variant. In an association study the allelic frequency of the Pro75Ala polymorphism was 3.2% (95% confidence interval, 1.9-4.5) in 330 patients with Type II diabetes mellitus compared with 4.2% (2.4-6.0) in 238 age-matched glucose tolerant control subjects. Moreover, in studies of 238 middle-aged glucose tolerant subjects, of 226 glucose tolerant offspring of Type II diabetic patients and of 367 young healthy subjects, the carriers of the polymorphism did not differ from non-carriers in glucose induced serum insulin or C-peptide responses. Mutations in the coding region of the HNF-6 gene are not associated with Type II diabetes or with changes in insulin responses to glucose among the Caucasians examined.
{ "name": "glucose", "type": "ChemicalEntity" }
{ "name": "insulin", "type": "GeneOrGeneProduct" }
[ "Positive_Correlation", "Negative_Correlation", "Bind", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical glucose and a disease Type II diabetes mellitus in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[glucose,ChemicalEntity]' and '[Type II diabetes mellitus,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion. - Abstract of the Paper: [The transcription factor hepatocyte nuclear factor (HNF)-6 is an upstream regulator of several genes involved in the pathogenesis of maturity-onset diabetes of the young. We therefore tested the hypothesis that variability in the HNF-6 gene is associated with subsets of Type II (non-insulin-dependent) diabetes mellitus and estimates of insulin secretion in glucose tolerant subjects. We cloned the coding region as well as the intron-exon boundaries of the HNF-6 gene. We then examined them on genomic DNA in six MODY probands without mutations in the MODY1, MODY3 and MODY4 genes and in 54 patients with late-onset Type II diabetes by combined single strand conformational polymorphism-heteroduplex analysis followed by direct sequencing of identified variants. An identified missense variant was examined in association studies and genotype-phenotype studies. We identified two silent and one missense (Pro75 Ala) variant. In an association study the allelic frequency of the Pro75Ala polymorphism was 3.2% (95% confidence interval, 1.9-4.5) in 330 patients with Type II diabetes mellitus compared with 4.2% (2.4-6.0) in 238 age-matched glucose tolerant control subjects. Moreover, in studies of 238 middle-aged glucose tolerant subjects, of 226 glucose tolerant offspring of Type II diabetic patients and of 367 young healthy subjects, the carriers of the polymorphism did not differ from non-carriers in glucose induced serum insulin or C-peptide responses. Mutations in the coding region of the HNF-6 gene are not associated with Type II diabetes or with changes in insulin responses to glucose among the Caucasians examined.] Identify how '[glucose,ChemicalEntity]' and '[Type II diabetes mellitus,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion.
The transcription factor hepatocyte nuclear factor (HNF)-6 is an upstream regulator of several genes involved in the pathogenesis of maturity-onset diabetes of the young. We therefore tested the hypothesis that variability in the HNF-6 gene is associated with subsets of Type II (non-insulin-dependent) diabetes mellitus and estimates of insulin secretion in glucose tolerant subjects. We cloned the coding region as well as the intron-exon boundaries of the HNF-6 gene. We then examined them on genomic DNA in six MODY probands without mutations in the MODY1, MODY3 and MODY4 genes and in 54 patients with late-onset Type II diabetes by combined single strand conformational polymorphism-heteroduplex analysis followed by direct sequencing of identified variants. An identified missense variant was examined in association studies and genotype-phenotype studies. We identified two silent and one missense (Pro75 Ala) variant. In an association study the allelic frequency of the Pro75Ala polymorphism was 3.2% (95% confidence interval, 1.9-4.5) in 330 patients with Type II diabetes mellitus compared with 4.2% (2.4-6.0) in 238 age-matched glucose tolerant control subjects. Moreover, in studies of 238 middle-aged glucose tolerant subjects, of 226 glucose tolerant offspring of Type II diabetic patients and of 367 young healthy subjects, the carriers of the polymorphism did not differ from non-carriers in glucose induced serum insulin or C-peptide responses. Mutations in the coding region of the HNF-6 gene are not associated with Type II diabetes or with changes in insulin responses to glucose among the Caucasians examined.
{ "name": "glucose", "type": "ChemicalEntity" }
{ "name": "Type II diabetes mellitus", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein type II Ca2+-dependent lectin and a chemical mannose in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a chemical leads to higher gene expression, or higher gene expression increases sensitivity to the chemical, or a gene variant exacerbates the chemical's side effects, or a gene causes an over-response to the chemical, or there is a positive interaction between two genes in any manner. 'Negative_Correlation' indicates that a chemical leads to reduced gene expression, or higher gene expression results in decreased sensitivity or resistance to the chemical, or a gene variant offers protection against the chemical's adverse effects, or a gene contributes to resistance against the chemical, or there exists a negative interaction between two genes in any form. 'Bind' means that a chemical either connects to a gene's promoter region or a protein acts as a receptor for that chemical. 'Association' is used to describe relation that don't clearly fall under categories like positive correlation, negative correlation and bind , or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[type II Ca2+-dependent lectin,GeneOrGeneProduct]' and '[mannose,ChemicalEntity]'. - Title of the Paper: Langerin, a novel C-type lectin specific to Langerhans cells, is an endocytic receptor that induces the formation of Birbeck granules. - Abstract of the Paper: [We have identified a type II Ca2+-dependent lectin displaying mannose-binding specificity, exclusively expressed by Langerhans cells (LC), and named Langerin. LC are uniquely characterized by Birbeck granules (BG), which are organelles consisting of superimposed and zippered membranes. Here, we have shown that Langerin is constitutively associated with BG and that antibody to Langerin is internalized into these structures. Remarkably, transfection of Langerin cDNA into fibroblasts created a compact network of membrane structures with typical features of BG. Langerin is thus a potent inducer of membrane superimposition and zippering leading to BG formation. Our data suggest that induction of BG is a consequence of the antigen-capture function of Langerin, allowing routing into these organelles and providing access to a nonclassical antigen-processing pathway.] Identify how '[type II Ca2+-dependent lectin,GeneOrGeneProduct]' and '[mannose,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. [/INST]Bind</s>
Langerin, a novel C-type lectin specific to Langerhans cells, is an endocytic receptor that induces the formation of Birbeck granules.
We have identified a type II Ca2+-dependent lectin displaying mannose-binding specificity, exclusively expressed by Langerhans cells (LC), and named Langerin. LC are uniquely characterized by Birbeck granules (BG), which are organelles consisting of superimposed and zippered membranes. Here, we have shown that Langerin is constitutively associated with BG and that antibody to Langerin is internalized into these structures. Remarkably, transfection of Langerin cDNA into fibroblasts created a compact network of membrane structures with typical features of BG. Langerin is thus a potent inducer of membrane superimposition and zippering leading to BG formation. Our data suggest that induction of BG is a consequence of the antigen-capture function of Langerin, allowing routing into these organelles and providing access to a nonclassical antigen-processing pathway.
{ "name": "type II Ca2+-dependent lectin", "type": "GeneOrGeneProduct" }
{ "name": "mannose", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Bind", "Association" ]
Bind
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease breast cancer and a variant 5382insC in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[breast cancer,DiseaseOrPhenotypicFeature]' and '[5382insC,SequenceVariant]'. - Title of the Paper: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. - Abstract of the Paper: [We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively.. ] Identify how '[breast cancer,DiseaseOrPhenotypicFeature]' and '[5382insC,SequenceVariant]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively..
{ "name": "breast cancer", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "5382insC", "type": "SequenceVariant" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease breast cancer and a variant 4153delA in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[breast cancer,DiseaseOrPhenotypicFeature]' and '[4153delA,SequenceVariant]'. - Title of the Paper: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. - Abstract of the Paper: [We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively.. ] Identify how '[breast cancer,DiseaseOrPhenotypicFeature]' and '[4153delA,SequenceVariant]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively..
{ "name": "breast cancer", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "4153delA", "type": "SequenceVariant" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease breast cancer and a variant C61G in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[breast cancer,DiseaseOrPhenotypicFeature]' and '[C61G,SequenceVariant]'. - Title of the Paper: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. - Abstract of the Paper: [We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively.. ] Identify how '[breast cancer,DiseaseOrPhenotypicFeature]' and '[C61G,SequenceVariant]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively..
{ "name": "breast cancer", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "C61G", "type": "SequenceVariant" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease ovarian cancer and a variant 5382insC in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[ovarian cancer,DiseaseOrPhenotypicFeature]' and '[5382insC,SequenceVariant]'. - Title of the Paper: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. - Abstract of the Paper: [We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively.. ] Identify how '[ovarian cancer,DiseaseOrPhenotypicFeature]' and '[5382insC,SequenceVariant]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively..
{ "name": "ovarian cancer", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "5382insC", "type": "SequenceVariant" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease ovarian cancer and a variant 4153delA in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[ovarian cancer,DiseaseOrPhenotypicFeature]' and '[4153delA,SequenceVariant]'. - Title of the Paper: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. - Abstract of the Paper: [We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively.. ] Identify how '[ovarian cancer,DiseaseOrPhenotypicFeature]' and '[4153delA,SequenceVariant]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively..
{ "name": "ovarian cancer", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "4153delA", "type": "SequenceVariant" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease ovarian cancer and a variant C61G in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[ovarian cancer,DiseaseOrPhenotypicFeature]' and '[C61G,SequenceVariant]'. - Title of the Paper: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. - Abstract of the Paper: [We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively.. ] Identify how '[ovarian cancer,DiseaseOrPhenotypicFeature]' and '[C61G,SequenceVariant]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively..
{ "name": "ovarian cancer", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "C61G", "type": "SequenceVariant" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a variant 5382insC and a disease breast-ovarian cancer syndrome in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[5382insC,SequenceVariant]' and '[breast-ovarian cancer syndrome,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. - Abstract of the Paper: [We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively.. ] Identify how '[5382insC,SequenceVariant]' and '[breast-ovarian cancer syndrome,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively..
{ "name": "5382insC", "type": "SequenceVariant" }
{ "name": "breast-ovarian cancer syndrome", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a variant 4153delA and a disease breast-ovarian cancer syndrome in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[4153delA,SequenceVariant]' and '[breast-ovarian cancer syndrome,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. - Abstract of the Paper: [We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively.. ] Identify how '[4153delA,SequenceVariant]' and '[breast-ovarian cancer syndrome,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively..
{ "name": "4153delA", "type": "SequenceVariant" }
{ "name": "breast-ovarian cancer syndrome", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a variant C61G and a disease breast-ovarian cancer syndrome in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[C61G,SequenceVariant]' and '[breast-ovarian cancer syndrome,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. - Abstract of the Paper: [We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively.. ] Identify how '[C61G,SequenceVariant]' and '[breast-ovarian cancer syndrome,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively..
{ "name": "C61G", "type": "SequenceVariant" }
{ "name": "breast-ovarian cancer syndrome", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease BRCA1 abnormalities and a variant 5382insC in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[BRCA1 abnormalities,DiseaseOrPhenotypicFeature]' and '[5382insC,SequenceVariant]'. - Title of the Paper: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. - Abstract of the Paper: [We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively.. ] Identify how '[BRCA1 abnormalities,DiseaseOrPhenotypicFeature]' and '[5382insC,SequenceVariant]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively..
{ "name": "BRCA1 abnormalities", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "5382insC", "type": "SequenceVariant" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease BRCA1 abnormalities and a variant 4153delA in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[BRCA1 abnormalities,DiseaseOrPhenotypicFeature]' and '[4153delA,SequenceVariant]'. - Title of the Paper: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. - Abstract of the Paper: [We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively.. ] Identify how '[BRCA1 abnormalities,DiseaseOrPhenotypicFeature]' and '[4153delA,SequenceVariant]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively..
{ "name": "BRCA1 abnormalities", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "4153delA", "type": "SequenceVariant" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease BRCA1 abnormalities and a variant C61G in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[BRCA1 abnormalities,DiseaseOrPhenotypicFeature]' and '[C61G,SequenceVariant]'. - Title of the Paper: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. - Abstract of the Paper: [We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively.. ] Identify how '[BRCA1 abnormalities,DiseaseOrPhenotypicFeature]' and '[C61G,SequenceVariant]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively..
{ "name": "BRCA1 abnormalities", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "C61G", "type": "SequenceVariant" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein BRCA1 and a disease breast cancers in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[BRCA1,GeneOrGeneProduct]' and '[breast cancers,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. - Abstract of the Paper: [We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively.. ] Identify how '[BRCA1,GeneOrGeneProduct]' and '[breast cancers,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively..
{ "name": "BRCA1", "type": "GeneOrGeneProduct" }
{ "name": "breast cancers", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein BRCA1 and a disease ovarian cancer in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[BRCA1,GeneOrGeneProduct]' and '[ovarian cancer,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. - Abstract of the Paper: [We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively.. ] Identify how '[BRCA1,GeneOrGeneProduct]' and '[ovarian cancer,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively..
{ "name": "BRCA1", "type": "GeneOrGeneProduct" }
{ "name": "ovarian cancer", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein BRCA1 and a disease BRCA1 abnormalities in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[BRCA1,GeneOrGeneProduct]' and '[BRCA1 abnormalities,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. - Abstract of the Paper: [We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively.. ] Identify how '[BRCA1,GeneOrGeneProduct]' and '[BRCA1 abnormalities,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively..
{ "name": "BRCA1", "type": "GeneOrGeneProduct" }
{ "name": "BRCA1 abnormalities", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein BRCA1 and a disease breast-ovarian cancer in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[BRCA1,GeneOrGeneProduct]' and '[breast-ovarian cancer,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. - Abstract of the Paper: [We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively.. ] Identify how '[BRCA1,GeneOrGeneProduct]' and '[breast-ovarian cancer,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age < 50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, 20%, and 11% of the identified mutations, respectively..
{ "name": "BRCA1", "type": "GeneOrGeneProduct" }
{ "name": "breast-ovarian cancer", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical levodopa and a disease dyskinesias in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[levodopa,ChemicalEntity]' and '[dyskinesias,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Apomorphine: an underutilized therapy for Parkinson's disease. - Abstract of the Paper: [Apomorphine was the first dopaminergic drug ever used to treat symptoms of Parkinson's disease. While powerful antiparkinsonian effects had been observed as early as 1951, the potential of treating fluctuating Parkinson's disease by subcutaneous administration of apomorphine has only recently become the subject of systematic study. A number of small scale clinical trials have unequivocally shown that intermittent subcutaneous apomorphine injections produce antiparkinsonian benefit close if not identical to that seen with levodopa and that apomorphine rescue injections can reliably revert off-periods even in patients with complex on-off motor swings. Continuous subcutaneous apomorphine infusions can reduce daily off-time by more than 50% in this group of patients, which appears to be a stronger effect than that generally seen with add-on therapy with oral dopamine agonists or COMT inhibitors. Extended follow-up studies of up to 8 years have demonstrated long-term persistence of apomorphine efficacy. In addition, there is convincing clinical evidence that monotherapy with continuous subcutaneous apomorphine infusions is associated with marked reductions of preexisting levodopa-induced dyskinesias. The main side effects of subcutaneous apomorphine treatment are related to cutaneous tolerability problems, whereas sedation and psychiatric complications play a lesser role. Given the marked degree of efficacy of subcutaneous apomorphine treatment in fluctuating Parkinson's disease, this approach seems to deserve more widespread clinical use.] Identify how '[levodopa,ChemicalEntity]' and '[dyskinesias,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Apomorphine: an underutilized therapy for Parkinson's disease.
Apomorphine was the first dopaminergic drug ever used to treat symptoms of Parkinson's disease. While powerful antiparkinsonian effects had been observed as early as 1951, the potential of treating fluctuating Parkinson's disease by subcutaneous administration of apomorphine has only recently become the subject of systematic study. A number of small scale clinical trials have unequivocally shown that intermittent subcutaneous apomorphine injections produce antiparkinsonian benefit close if not identical to that seen with levodopa and that apomorphine rescue injections can reliably revert off-periods even in patients with complex on-off motor swings. Continuous subcutaneous apomorphine infusions can reduce daily off-time by more than 50% in this group of patients, which appears to be a stronger effect than that generally seen with add-on therapy with oral dopamine agonists or COMT inhibitors. Extended follow-up studies of up to 8 years have demonstrated long-term persistence of apomorphine efficacy. In addition, there is convincing clinical evidence that monotherapy with continuous subcutaneous apomorphine infusions is associated with marked reductions of preexisting levodopa-induced dyskinesias. The main side effects of subcutaneous apomorphine treatment are related to cutaneous tolerability problems, whereas sedation and psychiatric complications play a lesser role. Given the marked degree of efficacy of subcutaneous apomorphine treatment in fluctuating Parkinson's disease, this approach seems to deserve more widespread clinical use.
{ "name": "levodopa", "type": "ChemicalEntity" }
{ "name": "dyskinesias", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical apomorphine and a chemical levodopa in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' indicates that Chemical A increases the effectiveness of Chemical B. This includes making Chemical B more sensitive, enhancing its ability to treat or induce a disease, or boosting its role in gene activation. 'Negative_Correlation' means that Chemical A reduces the effectiveness and impact of Chemical B. This includes decreasing Chemical B's sensitivity, reducing its ability to treat or induce a disease, diminishing its side effects, and lowering the gene activation it causes. 'Drug_Interaction' is when two different drugs or chemicals affect each other's action in the body, happening when they are used at the same time. 'Cotreatment' means that two different drugs or chemicals are used in combination therapy. 'Conversion' means that one chemical changes into another chemical. 'Comparison' means that two different drugs or chemicals have some differences and similarities in their effects. 'Association' refers to the relation between two chemicals that do not fit into any specific, predefined categories of relations. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[apomorphine,ChemicalEntity]' and '[levodopa,ChemicalEntity]'. - Title of the Paper: Apomorphine: an underutilized therapy for Parkinson's disease. - Abstract of the Paper: [Apomorphine was the first dopaminergic drug ever used to treat symptoms of Parkinson's disease. While powerful antiparkinsonian effects had been observed as early as 1951, the potential of treating fluctuating Parkinson's disease by subcutaneous administration of apomorphine has only recently become the subject of systematic study. A number of small scale clinical trials have unequivocally shown that intermittent subcutaneous apomorphine injections produce antiparkinsonian benefit close if not identical to that seen with levodopa and that apomorphine rescue injections can reliably revert off-periods even in patients with complex on-off motor swings. Continuous subcutaneous apomorphine infusions can reduce daily off-time by more than 50% in this group of patients, which appears to be a stronger effect than that generally seen with add-on therapy with oral dopamine agonists or COMT inhibitors. Extended follow-up studies of up to 8 years have demonstrated long-term persistence of apomorphine efficacy. In addition, there is convincing clinical evidence that monotherapy with continuous subcutaneous apomorphine infusions is associated with marked reductions of preexisting levodopa-induced dyskinesias. The main side effects of subcutaneous apomorphine treatment are related to cutaneous tolerability problems, whereas sedation and psychiatric complications play a lesser role. Given the marked degree of efficacy of subcutaneous apomorphine treatment in fluctuating Parkinson's disease, this approach seems to deserve more widespread clinical use.] Identify how '[apomorphine,ChemicalEntity]' and '[levodopa,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association']. [/INST]Negative_Correlation</s>
Apomorphine: an underutilized therapy for Parkinson's disease.
Apomorphine was the first dopaminergic drug ever used to treat symptoms of Parkinson's disease. While powerful antiparkinsonian effects had been observed as early as 1951, the potential of treating fluctuating Parkinson's disease by subcutaneous administration of apomorphine has only recently become the subject of systematic study. A number of small scale clinical trials have unequivocally shown that intermittent subcutaneous apomorphine injections produce antiparkinsonian benefit close if not identical to that seen with levodopa and that apomorphine rescue injections can reliably revert off-periods even in patients with complex on-off motor swings. Continuous subcutaneous apomorphine infusions can reduce daily off-time by more than 50% in this group of patients, which appears to be a stronger effect than that generally seen with add-on therapy with oral dopamine agonists or COMT inhibitors. Extended follow-up studies of up to 8 years have demonstrated long-term persistence of apomorphine efficacy. In addition, there is convincing clinical evidence that monotherapy with continuous subcutaneous apomorphine infusions is associated with marked reductions of preexisting levodopa-induced dyskinesias. The main side effects of subcutaneous apomorphine treatment are related to cutaneous tolerability problems, whereas sedation and psychiatric complications play a lesser role. Given the marked degree of efficacy of subcutaneous apomorphine treatment in fluctuating Parkinson's disease, this approach seems to deserve more widespread clinical use.
{ "name": "apomorphine", "type": "ChemicalEntity" }
{ "name": "levodopa", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Drug_Interaction", "Cotreatment", "Conversion", "Comparison", "Association" ]
Negative_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical apomorphine and a disease dyskinesias in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[apomorphine,ChemicalEntity]' and '[dyskinesias,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Apomorphine: an underutilized therapy for Parkinson's disease. - Abstract of the Paper: [Apomorphine was the first dopaminergic drug ever used to treat symptoms of Parkinson's disease. While powerful antiparkinsonian effects had been observed as early as 1951, the potential of treating fluctuating Parkinson's disease by subcutaneous administration of apomorphine has only recently become the subject of systematic study. A number of small scale clinical trials have unequivocally shown that intermittent subcutaneous apomorphine injections produce antiparkinsonian benefit close if not identical to that seen with levodopa and that apomorphine rescue injections can reliably revert off-periods even in patients with complex on-off motor swings. Continuous subcutaneous apomorphine infusions can reduce daily off-time by more than 50% in this group of patients, which appears to be a stronger effect than that generally seen with add-on therapy with oral dopamine agonists or COMT inhibitors. Extended follow-up studies of up to 8 years have demonstrated long-term persistence of apomorphine efficacy. In addition, there is convincing clinical evidence that monotherapy with continuous subcutaneous apomorphine infusions is associated with marked reductions of preexisting levodopa-induced dyskinesias. The main side effects of subcutaneous apomorphine treatment are related to cutaneous tolerability problems, whereas sedation and psychiatric complications play a lesser role. Given the marked degree of efficacy of subcutaneous apomorphine treatment in fluctuating Parkinson's disease, this approach seems to deserve more widespread clinical use.] Identify how '[apomorphine,ChemicalEntity]' and '[dyskinesias,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Negative_Correlation</s>
Apomorphine: an underutilized therapy for Parkinson's disease.
Apomorphine was the first dopaminergic drug ever used to treat symptoms of Parkinson's disease. While powerful antiparkinsonian effects had been observed as early as 1951, the potential of treating fluctuating Parkinson's disease by subcutaneous administration of apomorphine has only recently become the subject of systematic study. A number of small scale clinical trials have unequivocally shown that intermittent subcutaneous apomorphine injections produce antiparkinsonian benefit close if not identical to that seen with levodopa and that apomorphine rescue injections can reliably revert off-periods even in patients with complex on-off motor swings. Continuous subcutaneous apomorphine infusions can reduce daily off-time by more than 50% in this group of patients, which appears to be a stronger effect than that generally seen with add-on therapy with oral dopamine agonists or COMT inhibitors. Extended follow-up studies of up to 8 years have demonstrated long-term persistence of apomorphine efficacy. In addition, there is convincing clinical evidence that monotherapy with continuous subcutaneous apomorphine infusions is associated with marked reductions of preexisting levodopa-induced dyskinesias. The main side effects of subcutaneous apomorphine treatment are related to cutaneous tolerability problems, whereas sedation and psychiatric complications play a lesser role. Given the marked degree of efficacy of subcutaneous apomorphine treatment in fluctuating Parkinson's disease, this approach seems to deserve more widespread clinical use.
{ "name": "apomorphine", "type": "ChemicalEntity" }
{ "name": "dyskinesias", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Negative_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical Apomorphine and a disease Parkinson's disease in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[Apomorphine,ChemicalEntity]' and '[Parkinson's disease,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Apomorphine: an underutilized therapy for Parkinson's disease. - Abstract of the Paper: [Apomorphine was the first dopaminergic drug ever used to treat symptoms of Parkinson's disease. While powerful antiparkinsonian effects had been observed as early as 1951, the potential of treating fluctuating Parkinson's disease by subcutaneous administration of apomorphine has only recently become the subject of systematic study. A number of small scale clinical trials have unequivocally shown that intermittent subcutaneous apomorphine injections produce antiparkinsonian benefit close if not identical to that seen with levodopa and that apomorphine rescue injections can reliably revert off-periods even in patients with complex on-off motor swings. Continuous subcutaneous apomorphine infusions can reduce daily off-time by more than 50% in this group of patients, which appears to be a stronger effect than that generally seen with add-on therapy with oral dopamine agonists or COMT inhibitors. Extended follow-up studies of up to 8 years have demonstrated long-term persistence of apomorphine efficacy. In addition, there is convincing clinical evidence that monotherapy with continuous subcutaneous apomorphine infusions is associated with marked reductions of preexisting levodopa-induced dyskinesias. The main side effects of subcutaneous apomorphine treatment are related to cutaneous tolerability problems, whereas sedation and psychiatric complications play a lesser role. Given the marked degree of efficacy of subcutaneous apomorphine treatment in fluctuating Parkinson's disease, this approach seems to deserve more widespread clinical use.] Identify how '[Apomorphine,ChemicalEntity]' and '[Parkinson's disease,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Negative_Correlation</s>
Apomorphine: an underutilized therapy for Parkinson's disease.
Apomorphine was the first dopaminergic drug ever used to treat symptoms of Parkinson's disease. While powerful antiparkinsonian effects had been observed as early as 1951, the potential of treating fluctuating Parkinson's disease by subcutaneous administration of apomorphine has only recently become the subject of systematic study. A number of small scale clinical trials have unequivocally shown that intermittent subcutaneous apomorphine injections produce antiparkinsonian benefit close if not identical to that seen with levodopa and that apomorphine rescue injections can reliably revert off-periods even in patients with complex on-off motor swings. Continuous subcutaneous apomorphine infusions can reduce daily off-time by more than 50% in this group of patients, which appears to be a stronger effect than that generally seen with add-on therapy with oral dopamine agonists or COMT inhibitors. Extended follow-up studies of up to 8 years have demonstrated long-term persistence of apomorphine efficacy. In addition, there is convincing clinical evidence that monotherapy with continuous subcutaneous apomorphine infusions is associated with marked reductions of preexisting levodopa-induced dyskinesias. The main side effects of subcutaneous apomorphine treatment are related to cutaneous tolerability problems, whereas sedation and psychiatric complications play a lesser role. Given the marked degree of efficacy of subcutaneous apomorphine treatment in fluctuating Parkinson's disease, this approach seems to deserve more widespread clinical use.
{ "name": "Apomorphine", "type": "ChemicalEntity" }
{ "name": "Parkinson's disease", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Negative_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease uterine sarcoma and a gene or protein Rab6c in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a protein or gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or drug) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[uterine sarcoma,DiseaseOrPhenotypicFeature]' and '[Rab6c,GeneOrGeneProduct]'. - Title of the Paper: Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells. - Abstract of the Paper: [A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant (MDR) breast cancer cell line, MCF7/AdrR, by the methylation sensitive-representational difference analysis (MS-RDA) technique. Rab6c was found to be under-expressed in MCF7/AdrR and MES-SA/Dx5 (a human MDR uterine sarcoma cell line) compared with their non-MDR parental cell lines. MCF7/AdrR cells expressing the exogenous Rab6c exhibited less resistance to several anti-cancer drugs, such as doxorubicin (DOX), taxol, vinblastine, and vincristine, than the control cells containing the empty vector. Flow cytometry experiments confirmed that the transfectants' diminished resistance to DOX was caused by increased drug accumulation induced by the exogenous Rab6c. These results indicate that Rab6c is involved in drug resistance in MCF7/AdrR cells.] Identify how '[uterine sarcoma,DiseaseOrPhenotypicFeature]' and '[Rab6c,GeneOrGeneProduct]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells.
A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant (MDR) breast cancer cell line, MCF7/AdrR, by the methylation sensitive-representational difference analysis (MS-RDA) technique. Rab6c was found to be under-expressed in MCF7/AdrR and MES-SA/Dx5 (a human MDR uterine sarcoma cell line) compared with their non-MDR parental cell lines. MCF7/AdrR cells expressing the exogenous Rab6c exhibited less resistance to several anti-cancer drugs, such as doxorubicin (DOX), taxol, vinblastine, and vincristine, than the control cells containing the empty vector. Flow cytometry experiments confirmed that the transfectants' diminished resistance to DOX was caused by increased drug accumulation induced by the exogenous Rab6c. These results indicate that Rab6c is involved in drug resistance in MCF7/AdrR cells.
{ "name": "uterine sarcoma", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "Rab6c", "type": "GeneOrGeneProduct" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein Rab6c and a chemical vincristine in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a chemical leads to higher gene expression, or higher gene expression increases sensitivity to the chemical, or a gene variant exacerbates the chemical's side effects, or a gene causes an over-response to the chemical, or there is a positive interaction between two genes in any manner. 'Negative_Correlation' indicates that a chemical leads to reduced gene expression, or higher gene expression results in decreased sensitivity or resistance to the chemical, or a gene variant offers protection against the chemical's adverse effects, or a gene contributes to resistance against the chemical, or there exists a negative interaction between two genes in any form. 'Bind' means that a chemical either connects to a gene's promoter region or a protein acts as a receptor for that chemical. 'Association' is used to describe relation that don't clearly fall under categories like positive correlation, negative correlation and bind , or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[Rab6c,GeneOrGeneProduct]' and '[vincristine,ChemicalEntity]'. - Title of the Paper: Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells. - Abstract of the Paper: [A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant (MDR) breast cancer cell line, MCF7/AdrR, by the methylation sensitive-representational difference analysis (MS-RDA) technique. Rab6c was found to be under-expressed in MCF7/AdrR and MES-SA/Dx5 (a human MDR uterine sarcoma cell line) compared with their non-MDR parental cell lines. MCF7/AdrR cells expressing the exogenous Rab6c exhibited less resistance to several anti-cancer drugs, such as doxorubicin (DOX), taxol, vinblastine, and vincristine, than the control cells containing the empty vector. Flow cytometry experiments confirmed that the transfectants' diminished resistance to DOX was caused by increased drug accumulation induced by the exogenous Rab6c. These results indicate that Rab6c is involved in drug resistance in MCF7/AdrR cells.] Identify how '[Rab6c,GeneOrGeneProduct]' and '[vincristine,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. [/INST]Positive_Correlation</s>
Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells.
A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant (MDR) breast cancer cell line, MCF7/AdrR, by the methylation sensitive-representational difference analysis (MS-RDA) technique. Rab6c was found to be under-expressed in MCF7/AdrR and MES-SA/Dx5 (a human MDR uterine sarcoma cell line) compared with their non-MDR parental cell lines. MCF7/AdrR cells expressing the exogenous Rab6c exhibited less resistance to several anti-cancer drugs, such as doxorubicin (DOX), taxol, vinblastine, and vincristine, than the control cells containing the empty vector. Flow cytometry experiments confirmed that the transfectants' diminished resistance to DOX was caused by increased drug accumulation induced by the exogenous Rab6c. These results indicate that Rab6c is involved in drug resistance in MCF7/AdrR cells.
{ "name": "Rab6c", "type": "GeneOrGeneProduct" }
{ "name": "vincristine", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Bind", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein Rab6c and a chemical vinblastine in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a chemical leads to higher gene expression, or higher gene expression increases sensitivity to the chemical, or a gene variant exacerbates the chemical's side effects, or a gene causes an over-response to the chemical, or there is a positive interaction between two genes in any manner. 'Negative_Correlation' indicates that a chemical leads to reduced gene expression, or higher gene expression results in decreased sensitivity or resistance to the chemical, or a gene variant offers protection against the chemical's adverse effects, or a gene contributes to resistance against the chemical, or there exists a negative interaction between two genes in any form. 'Bind' means that a chemical either connects to a gene's promoter region or a protein acts as a receptor for that chemical. 'Association' is used to describe relation that don't clearly fall under categories like positive correlation, negative correlation and bind , or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[Rab6c,GeneOrGeneProduct]' and '[vinblastine,ChemicalEntity]'. - Title of the Paper: Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells. - Abstract of the Paper: [A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant (MDR) breast cancer cell line, MCF7/AdrR, by the methylation sensitive-representational difference analysis (MS-RDA) technique. Rab6c was found to be under-expressed in MCF7/AdrR and MES-SA/Dx5 (a human MDR uterine sarcoma cell line) compared with their non-MDR parental cell lines. MCF7/AdrR cells expressing the exogenous Rab6c exhibited less resistance to several anti-cancer drugs, such as doxorubicin (DOX), taxol, vinblastine, and vincristine, than the control cells containing the empty vector. Flow cytometry experiments confirmed that the transfectants' diminished resistance to DOX was caused by increased drug accumulation induced by the exogenous Rab6c. These results indicate that Rab6c is involved in drug resistance in MCF7/AdrR cells.] Identify how '[Rab6c,GeneOrGeneProduct]' and '[vinblastine,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. [/INST]Positive_Correlation</s>
Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells.
A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant (MDR) breast cancer cell line, MCF7/AdrR, by the methylation sensitive-representational difference analysis (MS-RDA) technique. Rab6c was found to be under-expressed in MCF7/AdrR and MES-SA/Dx5 (a human MDR uterine sarcoma cell line) compared with their non-MDR parental cell lines. MCF7/AdrR cells expressing the exogenous Rab6c exhibited less resistance to several anti-cancer drugs, such as doxorubicin (DOX), taxol, vinblastine, and vincristine, than the control cells containing the empty vector. Flow cytometry experiments confirmed that the transfectants' diminished resistance to DOX was caused by increased drug accumulation induced by the exogenous Rab6c. These results indicate that Rab6c is involved in drug resistance in MCF7/AdrR cells.
{ "name": "Rab6c", "type": "GeneOrGeneProduct" }
{ "name": "vinblastine", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Bind", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein Rab6c and a chemical taxol in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a chemical leads to higher gene expression, or higher gene expression increases sensitivity to the chemical, or a gene variant exacerbates the chemical's side effects, or a gene causes an over-response to the chemical, or there is a positive interaction between two genes in any manner. 'Negative_Correlation' indicates that a chemical leads to reduced gene expression, or higher gene expression results in decreased sensitivity or resistance to the chemical, or a gene variant offers protection against the chemical's adverse effects, or a gene contributes to resistance against the chemical, or there exists a negative interaction between two genes in any form. 'Bind' means that a chemical either connects to a gene's promoter region or a protein acts as a receptor for that chemical. 'Association' is used to describe relation that don't clearly fall under categories like positive correlation, negative correlation and bind , or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[Rab6c,GeneOrGeneProduct]' and '[taxol,ChemicalEntity]'. - Title of the Paper: Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells. - Abstract of the Paper: [A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant (MDR) breast cancer cell line, MCF7/AdrR, by the methylation sensitive-representational difference analysis (MS-RDA) technique. Rab6c was found to be under-expressed in MCF7/AdrR and MES-SA/Dx5 (a human MDR uterine sarcoma cell line) compared with their non-MDR parental cell lines. MCF7/AdrR cells expressing the exogenous Rab6c exhibited less resistance to several anti-cancer drugs, such as doxorubicin (DOX), taxol, vinblastine, and vincristine, than the control cells containing the empty vector. Flow cytometry experiments confirmed that the transfectants' diminished resistance to DOX was caused by increased drug accumulation induced by the exogenous Rab6c. These results indicate that Rab6c is involved in drug resistance in MCF7/AdrR cells.] Identify how '[Rab6c,GeneOrGeneProduct]' and '[taxol,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. [/INST]Positive_Correlation</s>
Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells.
A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant (MDR) breast cancer cell line, MCF7/AdrR, by the methylation sensitive-representational difference analysis (MS-RDA) technique. Rab6c was found to be under-expressed in MCF7/AdrR and MES-SA/Dx5 (a human MDR uterine sarcoma cell line) compared with their non-MDR parental cell lines. MCF7/AdrR cells expressing the exogenous Rab6c exhibited less resistance to several anti-cancer drugs, such as doxorubicin (DOX), taxol, vinblastine, and vincristine, than the control cells containing the empty vector. Flow cytometry experiments confirmed that the transfectants' diminished resistance to DOX was caused by increased drug accumulation induced by the exogenous Rab6c. These results indicate that Rab6c is involved in drug resistance in MCF7/AdrR cells.
{ "name": "Rab6c", "type": "GeneOrGeneProduct" }
{ "name": "taxol", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Bind", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein Rab6c and a chemical doxorubicin in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a chemical leads to higher gene expression, or higher gene expression increases sensitivity to the chemical, or a gene variant exacerbates the chemical's side effects, or a gene causes an over-response to the chemical, or there is a positive interaction between two genes in any manner. 'Negative_Correlation' indicates that a chemical leads to reduced gene expression, or higher gene expression results in decreased sensitivity or resistance to the chemical, or a gene variant offers protection against the chemical's adverse effects, or a gene contributes to resistance against the chemical, or there exists a negative interaction between two genes in any form. 'Bind' means that a chemical either connects to a gene's promoter region or a protein acts as a receptor for that chemical. 'Association' is used to describe relation that don't clearly fall under categories like positive correlation, negative correlation and bind , or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[Rab6c,GeneOrGeneProduct]' and '[doxorubicin,ChemicalEntity]'. - Title of the Paper: Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells. - Abstract of the Paper: [A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant (MDR) breast cancer cell line, MCF7/AdrR, by the methylation sensitive-representational difference analysis (MS-RDA) technique. Rab6c was found to be under-expressed in MCF7/AdrR and MES-SA/Dx5 (a human MDR uterine sarcoma cell line) compared with their non-MDR parental cell lines. MCF7/AdrR cells expressing the exogenous Rab6c exhibited less resistance to several anti-cancer drugs, such as doxorubicin (DOX), taxol, vinblastine, and vincristine, than the control cells containing the empty vector. Flow cytometry experiments confirmed that the transfectants' diminished resistance to DOX was caused by increased drug accumulation induced by the exogenous Rab6c. These results indicate that Rab6c is involved in drug resistance in MCF7/AdrR cells.] Identify how '[Rab6c,GeneOrGeneProduct]' and '[doxorubicin,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. [/INST]Positive_Correlation</s>
Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells.
A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant (MDR) breast cancer cell line, MCF7/AdrR, by the methylation sensitive-representational difference analysis (MS-RDA) technique. Rab6c was found to be under-expressed in MCF7/AdrR and MES-SA/Dx5 (a human MDR uterine sarcoma cell line) compared with their non-MDR parental cell lines. MCF7/AdrR cells expressing the exogenous Rab6c exhibited less resistance to several anti-cancer drugs, such as doxorubicin (DOX), taxol, vinblastine, and vincristine, than the control cells containing the empty vector. Flow cytometry experiments confirmed that the transfectants' diminished resistance to DOX was caused by increased drug accumulation induced by the exogenous Rab6c. These results indicate that Rab6c is involved in drug resistance in MCF7/AdrR cells.
{ "name": "Rab6c", "type": "GeneOrGeneProduct" }
{ "name": "doxorubicin", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Bind", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein calcineurin and a chemical tacrolimus in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a chemical leads to higher gene expression, or higher gene expression increases sensitivity to the chemical, or a gene variant exacerbates the chemical's side effects, or a gene causes an over-response to the chemical, or there is a positive interaction between two genes in any manner. 'Negative_Correlation' indicates that a chemical leads to reduced gene expression, or higher gene expression results in decreased sensitivity or resistance to the chemical, or a gene variant offers protection against the chemical's adverse effects, or a gene contributes to resistance against the chemical, or there exists a negative interaction between two genes in any form. 'Bind' means that a chemical either connects to a gene's promoter region or a protein acts as a receptor for that chemical. 'Association' is used to describe relation that don't clearly fall under categories like positive correlation, negative correlation and bind , or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[calcineurin,GeneOrGeneProduct]' and '[tacrolimus,ChemicalEntity]'. - Title of the Paper: End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment. - Abstract of the Paper: [BACKGROUND: The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic. Their use in orthotopic liver transplantation (OLTX) has dramatically improved success rates. Recently, however, we have had an increase of patients who are presenting after OLTX with end-stage renal disease (ESRD). This retrospective study examines the incidence and treatment of ESRD and chronic renal failure (CRF) in OLTX patients. METHODS: Patients receiving an OLTX only from June 1985 through December of 1994 who survived 6 months postoperatively were studied (n=834). Our prospectively collected database was the source of information. Patients were divided into three groups: Controls, no CRF or ESRD, n=748; CRF, sustained serum creatinine >2.5 mg/dl, n=41; and ESRD, n=45. Groups were compared for preoperative laboratory variables, diagnosis, postoperative variables, survival, type of ESRD therapy, and survival from onset of ESRD. RESULTS: At 13 years after OLTX, the incidence of severe renal dysfunction was 18.1% (CRF 8.6% and ESRD 9.5%). Compared with control patients, CRF and ESRD patients had higher preoperative serum creatinine levels, a greater percentage of patients with hepatorenal syndrome, higher percentage requirement for dialysis in the first 3 months postoperatively, and a higher 1-year serum creatinine. Multivariate stepwise logistic regression analysis using preoperative and postoperative variables identified that an increase of serum creatinine compared with average at 1 year, 3 months, and 4 weeks postoperatively were independent risk factors for the development of CRF or ESRD with odds ratios of 2.6, 2.2, and 1.6, respectively. Overall survival from the time of OLTX was not significantly different among groups, but by year 13, the survival of the patients who had ESRD was only 28.2% compared with 54.6% in the control group. Patients developing ESRD had a 6-year survival after onset of ESRD of 27% for the patients receiving hemodialysis versus 71.4% for the patients developing ESRD who subsequently received kidney transplants. CONCLUSIONS: Patients who are more than 10 years post-OLTX have CRF and ESRD at a high rate. The development of ESRD decreases survival, particularly in those patients treated with dialysis only. Patients who develop ESRD have a higher preoperative and 1-year serum creatinine and are more likely to have hepatorenal syndrome. However, an increase of serum creatinine at various times postoperatively is more predictive of the development of CRF or ESRD. New strategies for long-term immunosuppression may be needed to decrease this complication.] Identify how '[calcineurin,GeneOrGeneProduct]' and '[tacrolimus,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. [/INST]Negative_Correlation</s>
End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment.
BACKGROUND: The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic. Their use in orthotopic liver transplantation (OLTX) has dramatically improved success rates. Recently, however, we have had an increase of patients who are presenting after OLTX with end-stage renal disease (ESRD). This retrospective study examines the incidence and treatment of ESRD and chronic renal failure (CRF) in OLTX patients. METHODS: Patients receiving an OLTX only from June 1985 through December of 1994 who survived 6 months postoperatively were studied (n=834). Our prospectively collected database was the source of information. Patients were divided into three groups: Controls, no CRF or ESRD, n=748; CRF, sustained serum creatinine >2.5 mg/dl, n=41; and ESRD, n=45. Groups were compared for preoperative laboratory variables, diagnosis, postoperative variables, survival, type of ESRD therapy, and survival from onset of ESRD. RESULTS: At 13 years after OLTX, the incidence of severe renal dysfunction was 18.1% (CRF 8.6% and ESRD 9.5%). Compared with control patients, CRF and ESRD patients had higher preoperative serum creatinine levels, a greater percentage of patients with hepatorenal syndrome, higher percentage requirement for dialysis in the first 3 months postoperatively, and a higher 1-year serum creatinine. Multivariate stepwise logistic regression analysis using preoperative and postoperative variables identified that an increase of serum creatinine compared with average at 1 year, 3 months, and 4 weeks postoperatively were independent risk factors for the development of CRF or ESRD with odds ratios of 2.6, 2.2, and 1.6, respectively. Overall survival from the time of OLTX was not significantly different among groups, but by year 13, the survival of the patients who had ESRD was only 28.2% compared with 54.6% in the control group. Patients developing ESRD had a 6-year survival after onset of ESRD of 27% for the patients receiving hemodialysis versus 71.4% for the patients developing ESRD who subsequently received kidney transplants. CONCLUSIONS: Patients who are more than 10 years post-OLTX have CRF and ESRD at a high rate. The development of ESRD decreases survival, particularly in those patients treated with dialysis only. Patients who develop ESRD have a higher preoperative and 1-year serum creatinine and are more likely to have hepatorenal syndrome. However, an increase of serum creatinine at various times postoperatively is more predictive of the development of CRF or ESRD. New strategies for long-term immunosuppression may be needed to decrease this complication.
{ "name": "calcineurin", "type": "GeneOrGeneProduct" }
{ "name": "tacrolimus", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Bind", "Association" ]
Negative_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein calcineurin and a chemical cyclosporine in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a chemical leads to higher gene expression, or higher gene expression increases sensitivity to the chemical, or a gene variant exacerbates the chemical's side effects, or a gene causes an over-response to the chemical, or there is a positive interaction between two genes in any manner. 'Negative_Correlation' indicates that a chemical leads to reduced gene expression, or higher gene expression results in decreased sensitivity or resistance to the chemical, or a gene variant offers protection against the chemical's adverse effects, or a gene contributes to resistance against the chemical, or there exists a negative interaction between two genes in any form. 'Bind' means that a chemical either connects to a gene's promoter region or a protein acts as a receptor for that chemical. 'Association' is used to describe relation that don't clearly fall under categories like positive correlation, negative correlation and bind , or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[calcineurin,GeneOrGeneProduct]' and '[cyclosporine,ChemicalEntity]'. - Title of the Paper: End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment. - Abstract of the Paper: [BACKGROUND: The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic. Their use in orthotopic liver transplantation (OLTX) has dramatically improved success rates. Recently, however, we have had an increase of patients who are presenting after OLTX with end-stage renal disease (ESRD). This retrospective study examines the incidence and treatment of ESRD and chronic renal failure (CRF) in OLTX patients. METHODS: Patients receiving an OLTX only from June 1985 through December of 1994 who survived 6 months postoperatively were studied (n=834). Our prospectively collected database was the source of information. Patients were divided into three groups: Controls, no CRF or ESRD, n=748; CRF, sustained serum creatinine >2.5 mg/dl, n=41; and ESRD, n=45. Groups were compared for preoperative laboratory variables, diagnosis, postoperative variables, survival, type of ESRD therapy, and survival from onset of ESRD. RESULTS: At 13 years after OLTX, the incidence of severe renal dysfunction was 18.1% (CRF 8.6% and ESRD 9.5%). Compared with control patients, CRF and ESRD patients had higher preoperative serum creatinine levels, a greater percentage of patients with hepatorenal syndrome, higher percentage requirement for dialysis in the first 3 months postoperatively, and a higher 1-year serum creatinine. Multivariate stepwise logistic regression analysis using preoperative and postoperative variables identified that an increase of serum creatinine compared with average at 1 year, 3 months, and 4 weeks postoperatively were independent risk factors for the development of CRF or ESRD with odds ratios of 2.6, 2.2, and 1.6, respectively. Overall survival from the time of OLTX was not significantly different among groups, but by year 13, the survival of the patients who had ESRD was only 28.2% compared with 54.6% in the control group. Patients developing ESRD had a 6-year survival after onset of ESRD of 27% for the patients receiving hemodialysis versus 71.4% for the patients developing ESRD who subsequently received kidney transplants. CONCLUSIONS: Patients who are more than 10 years post-OLTX have CRF and ESRD at a high rate. The development of ESRD decreases survival, particularly in those patients treated with dialysis only. Patients who develop ESRD have a higher preoperative and 1-year serum creatinine and are more likely to have hepatorenal syndrome. However, an increase of serum creatinine at various times postoperatively is more predictive of the development of CRF or ESRD. New strategies for long-term immunosuppression may be needed to decrease this complication.] Identify how '[calcineurin,GeneOrGeneProduct]' and '[cyclosporine,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. [/INST]Negative_Correlation</s>
End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment.
BACKGROUND: The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic. Their use in orthotopic liver transplantation (OLTX) has dramatically improved success rates. Recently, however, we have had an increase of patients who are presenting after OLTX with end-stage renal disease (ESRD). This retrospective study examines the incidence and treatment of ESRD and chronic renal failure (CRF) in OLTX patients. METHODS: Patients receiving an OLTX only from June 1985 through December of 1994 who survived 6 months postoperatively were studied (n=834). Our prospectively collected database was the source of information. Patients were divided into three groups: Controls, no CRF or ESRD, n=748; CRF, sustained serum creatinine >2.5 mg/dl, n=41; and ESRD, n=45. Groups were compared for preoperative laboratory variables, diagnosis, postoperative variables, survival, type of ESRD therapy, and survival from onset of ESRD. RESULTS: At 13 years after OLTX, the incidence of severe renal dysfunction was 18.1% (CRF 8.6% and ESRD 9.5%). Compared with control patients, CRF and ESRD patients had higher preoperative serum creatinine levels, a greater percentage of patients with hepatorenal syndrome, higher percentage requirement for dialysis in the first 3 months postoperatively, and a higher 1-year serum creatinine. Multivariate stepwise logistic regression analysis using preoperative and postoperative variables identified that an increase of serum creatinine compared with average at 1 year, 3 months, and 4 weeks postoperatively were independent risk factors for the development of CRF or ESRD with odds ratios of 2.6, 2.2, and 1.6, respectively. Overall survival from the time of OLTX was not significantly different among groups, but by year 13, the survival of the patients who had ESRD was only 28.2% compared with 54.6% in the control group. Patients developing ESRD had a 6-year survival after onset of ESRD of 27% for the patients receiving hemodialysis versus 71.4% for the patients developing ESRD who subsequently received kidney transplants. CONCLUSIONS: Patients who are more than 10 years post-OLTX have CRF and ESRD at a high rate. The development of ESRD decreases survival, particularly in those patients treated with dialysis only. Patients who develop ESRD have a higher preoperative and 1-year serum creatinine and are more likely to have hepatorenal syndrome. However, an increase of serum creatinine at various times postoperatively is more predictive of the development of CRF or ESRD. New strategies for long-term immunosuppression may be needed to decrease this complication.
{ "name": "calcineurin", "type": "GeneOrGeneProduct" }
{ "name": "cyclosporine", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Bind", "Association" ]
Negative_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease hepatorenal syndrome and a chemical creatinine in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[hepatorenal syndrome,DiseaseOrPhenotypicFeature]' and '[creatinine,ChemicalEntity]'. - Title of the Paper: End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment. - Abstract of the Paper: [BACKGROUND: The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic. Their use in orthotopic liver transplantation (OLTX) has dramatically improved success rates. Recently, however, we have had an increase of patients who are presenting after OLTX with end-stage renal disease (ESRD). This retrospective study examines the incidence and treatment of ESRD and chronic renal failure (CRF) in OLTX patients. METHODS: Patients receiving an OLTX only from June 1985 through December of 1994 who survived 6 months postoperatively were studied (n=834). Our prospectively collected database was the source of information. Patients were divided into three groups: Controls, no CRF or ESRD, n=748; CRF, sustained serum creatinine >2.5 mg/dl, n=41; and ESRD, n=45. Groups were compared for preoperative laboratory variables, diagnosis, postoperative variables, survival, type of ESRD therapy, and survival from onset of ESRD. RESULTS: At 13 years after OLTX, the incidence of severe renal dysfunction was 18.1% (CRF 8.6% and ESRD 9.5%). Compared with control patients, CRF and ESRD patients had higher preoperative serum creatinine levels, a greater percentage of patients with hepatorenal syndrome, higher percentage requirement for dialysis in the first 3 months postoperatively, and a higher 1-year serum creatinine. Multivariate stepwise logistic regression analysis using preoperative and postoperative variables identified that an increase of serum creatinine compared with average at 1 year, 3 months, and 4 weeks postoperatively were independent risk factors for the development of CRF or ESRD with odds ratios of 2.6, 2.2, and 1.6, respectively. Overall survival from the time of OLTX was not significantly different among groups, but by year 13, the survival of the patients who had ESRD was only 28.2% compared with 54.6% in the control group. Patients developing ESRD had a 6-year survival after onset of ESRD of 27% for the patients receiving hemodialysis versus 71.4% for the patients developing ESRD who subsequently received kidney transplants. CONCLUSIONS: Patients who are more than 10 years post-OLTX have CRF and ESRD at a high rate. The development of ESRD decreases survival, particularly in those patients treated with dialysis only. Patients who develop ESRD have a higher preoperative and 1-year serum creatinine and are more likely to have hepatorenal syndrome. However, an increase of serum creatinine at various times postoperatively is more predictive of the development of CRF or ESRD. New strategies for long-term immunosuppression may be needed to decrease this complication.] Identify how '[hepatorenal syndrome,DiseaseOrPhenotypicFeature]' and '[creatinine,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment.
BACKGROUND: The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic. Their use in orthotopic liver transplantation (OLTX) has dramatically improved success rates. Recently, however, we have had an increase of patients who are presenting after OLTX with end-stage renal disease (ESRD). This retrospective study examines the incidence and treatment of ESRD and chronic renal failure (CRF) in OLTX patients. METHODS: Patients receiving an OLTX only from June 1985 through December of 1994 who survived 6 months postoperatively were studied (n=834). Our prospectively collected database was the source of information. Patients were divided into three groups: Controls, no CRF or ESRD, n=748; CRF, sustained serum creatinine >2.5 mg/dl, n=41; and ESRD, n=45. Groups were compared for preoperative laboratory variables, diagnosis, postoperative variables, survival, type of ESRD therapy, and survival from onset of ESRD. RESULTS: At 13 years after OLTX, the incidence of severe renal dysfunction was 18.1% (CRF 8.6% and ESRD 9.5%). Compared with control patients, CRF and ESRD patients had higher preoperative serum creatinine levels, a greater percentage of patients with hepatorenal syndrome, higher percentage requirement for dialysis in the first 3 months postoperatively, and a higher 1-year serum creatinine. Multivariate stepwise logistic regression analysis using preoperative and postoperative variables identified that an increase of serum creatinine compared with average at 1 year, 3 months, and 4 weeks postoperatively were independent risk factors for the development of CRF or ESRD with odds ratios of 2.6, 2.2, and 1.6, respectively. Overall survival from the time of OLTX was not significantly different among groups, but by year 13, the survival of the patients who had ESRD was only 28.2% compared with 54.6% in the control group. Patients developing ESRD had a 6-year survival after onset of ESRD of 27% for the patients receiving hemodialysis versus 71.4% for the patients developing ESRD who subsequently received kidney transplants. CONCLUSIONS: Patients who are more than 10 years post-OLTX have CRF and ESRD at a high rate. The development of ESRD decreases survival, particularly in those patients treated with dialysis only. Patients who develop ESRD have a higher preoperative and 1-year serum creatinine and are more likely to have hepatorenal syndrome. However, an increase of serum creatinine at various times postoperatively is more predictive of the development of CRF or ESRD. New strategies for long-term immunosuppression may be needed to decrease this complication.
{ "name": "hepatorenal syndrome", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "creatinine", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical tacrolimus and a disease nephrotoxic in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[tacrolimus,ChemicalEntity]' and '[nephrotoxic,DiseaseOrPhenotypicFeature]'. - Title of the Paper: End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment. - Abstract of the Paper: [BACKGROUND: The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic. Their use in orthotopic liver transplantation (OLTX) has dramatically improved success rates. Recently, however, we have had an increase of patients who are presenting after OLTX with end-stage renal disease (ESRD). This retrospective study examines the incidence and treatment of ESRD and chronic renal failure (CRF) in OLTX patients. METHODS: Patients receiving an OLTX only from June 1985 through December of 1994 who survived 6 months postoperatively were studied (n=834). Our prospectively collected database was the source of information. Patients were divided into three groups: Controls, no CRF or ESRD, n=748; CRF, sustained serum creatinine >2.5 mg/dl, n=41; and ESRD, n=45. Groups were compared for preoperative laboratory variables, diagnosis, postoperative variables, survival, type of ESRD therapy, and survival from onset of ESRD. RESULTS: At 13 years after OLTX, the incidence of severe renal dysfunction was 18.1% (CRF 8.6% and ESRD 9.5%). Compared with control patients, CRF and ESRD patients had higher preoperative serum creatinine levels, a greater percentage of patients with hepatorenal syndrome, higher percentage requirement for dialysis in the first 3 months postoperatively, and a higher 1-year serum creatinine. Multivariate stepwise logistic regression analysis using preoperative and postoperative variables identified that an increase of serum creatinine compared with average at 1 year, 3 months, and 4 weeks postoperatively were independent risk factors for the development of CRF or ESRD with odds ratios of 2.6, 2.2, and 1.6, respectively. Overall survival from the time of OLTX was not significantly different among groups, but by year 13, the survival of the patients who had ESRD was only 28.2% compared with 54.6% in the control group. Patients developing ESRD had a 6-year survival after onset of ESRD of 27% for the patients receiving hemodialysis versus 71.4% for the patients developing ESRD who subsequently received kidney transplants. CONCLUSIONS: Patients who are more than 10 years post-OLTX have CRF and ESRD at a high rate. The development of ESRD decreases survival, particularly in those patients treated with dialysis only. Patients who develop ESRD have a higher preoperative and 1-year serum creatinine and are more likely to have hepatorenal syndrome. However, an increase of serum creatinine at various times postoperatively is more predictive of the development of CRF or ESRD. New strategies for long-term immunosuppression may be needed to decrease this complication.] Identify how '[tacrolimus,ChemicalEntity]' and '[nephrotoxic,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment.
BACKGROUND: The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic. Their use in orthotopic liver transplantation (OLTX) has dramatically improved success rates. Recently, however, we have had an increase of patients who are presenting after OLTX with end-stage renal disease (ESRD). This retrospective study examines the incidence and treatment of ESRD and chronic renal failure (CRF) in OLTX patients. METHODS: Patients receiving an OLTX only from June 1985 through December of 1994 who survived 6 months postoperatively were studied (n=834). Our prospectively collected database was the source of information. Patients were divided into three groups: Controls, no CRF or ESRD, n=748; CRF, sustained serum creatinine >2.5 mg/dl, n=41; and ESRD, n=45. Groups were compared for preoperative laboratory variables, diagnosis, postoperative variables, survival, type of ESRD therapy, and survival from onset of ESRD. RESULTS: At 13 years after OLTX, the incidence of severe renal dysfunction was 18.1% (CRF 8.6% and ESRD 9.5%). Compared with control patients, CRF and ESRD patients had higher preoperative serum creatinine levels, a greater percentage of patients with hepatorenal syndrome, higher percentage requirement for dialysis in the first 3 months postoperatively, and a higher 1-year serum creatinine. Multivariate stepwise logistic regression analysis using preoperative and postoperative variables identified that an increase of serum creatinine compared with average at 1 year, 3 months, and 4 weeks postoperatively were independent risk factors for the development of CRF or ESRD with odds ratios of 2.6, 2.2, and 1.6, respectively. Overall survival from the time of OLTX was not significantly different among groups, but by year 13, the survival of the patients who had ESRD was only 28.2% compared with 54.6% in the control group. Patients developing ESRD had a 6-year survival after onset of ESRD of 27% for the patients receiving hemodialysis versus 71.4% for the patients developing ESRD who subsequently received kidney transplants. CONCLUSIONS: Patients who are more than 10 years post-OLTX have CRF and ESRD at a high rate. The development of ESRD decreases survival, particularly in those patients treated with dialysis only. Patients who develop ESRD have a higher preoperative and 1-year serum creatinine and are more likely to have hepatorenal syndrome. However, an increase of serum creatinine at various times postoperatively is more predictive of the development of CRF or ESRD. New strategies for long-term immunosuppression may be needed to decrease this complication.
{ "name": "tacrolimus", "type": "ChemicalEntity" }
{ "name": "nephrotoxic", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease CRF and a chemical creatinine in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[CRF,DiseaseOrPhenotypicFeature]' and '[creatinine,ChemicalEntity]'. - Title of the Paper: End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment. - Abstract of the Paper: [BACKGROUND: The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic. Their use in orthotopic liver transplantation (OLTX) has dramatically improved success rates. Recently, however, we have had an increase of patients who are presenting after OLTX with end-stage renal disease (ESRD). This retrospective study examines the incidence and treatment of ESRD and chronic renal failure (CRF) in OLTX patients. METHODS: Patients receiving an OLTX only from June 1985 through December of 1994 who survived 6 months postoperatively were studied (n=834). Our prospectively collected database was the source of information. Patients were divided into three groups: Controls, no CRF or ESRD, n=748; CRF, sustained serum creatinine >2.5 mg/dl, n=41; and ESRD, n=45. Groups were compared for preoperative laboratory variables, diagnosis, postoperative variables, survival, type of ESRD therapy, and survival from onset of ESRD. RESULTS: At 13 years after OLTX, the incidence of severe renal dysfunction was 18.1% (CRF 8.6% and ESRD 9.5%). Compared with control patients, CRF and ESRD patients had higher preoperative serum creatinine levels, a greater percentage of patients with hepatorenal syndrome, higher percentage requirement for dialysis in the first 3 months postoperatively, and a higher 1-year serum creatinine. Multivariate stepwise logistic regression analysis using preoperative and postoperative variables identified that an increase of serum creatinine compared with average at 1 year, 3 months, and 4 weeks postoperatively were independent risk factors for the development of CRF or ESRD with odds ratios of 2.6, 2.2, and 1.6, respectively. Overall survival from the time of OLTX was not significantly different among groups, but by year 13, the survival of the patients who had ESRD was only 28.2% compared with 54.6% in the control group. Patients developing ESRD had a 6-year survival after onset of ESRD of 27% for the patients receiving hemodialysis versus 71.4% for the patients developing ESRD who subsequently received kidney transplants. CONCLUSIONS: Patients who are more than 10 years post-OLTX have CRF and ESRD at a high rate. The development of ESRD decreases survival, particularly in those patients treated with dialysis only. Patients who develop ESRD have a higher preoperative and 1-year serum creatinine and are more likely to have hepatorenal syndrome. However, an increase of serum creatinine at various times postoperatively is more predictive of the development of CRF or ESRD. New strategies for long-term immunosuppression may be needed to decrease this complication.] Identify how '[CRF,DiseaseOrPhenotypicFeature]' and '[creatinine,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment.
BACKGROUND: The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic. Their use in orthotopic liver transplantation (OLTX) has dramatically improved success rates. Recently, however, we have had an increase of patients who are presenting after OLTX with end-stage renal disease (ESRD). This retrospective study examines the incidence and treatment of ESRD and chronic renal failure (CRF) in OLTX patients. METHODS: Patients receiving an OLTX only from June 1985 through December of 1994 who survived 6 months postoperatively were studied (n=834). Our prospectively collected database was the source of information. Patients were divided into three groups: Controls, no CRF or ESRD, n=748; CRF, sustained serum creatinine >2.5 mg/dl, n=41; and ESRD, n=45. Groups were compared for preoperative laboratory variables, diagnosis, postoperative variables, survival, type of ESRD therapy, and survival from onset of ESRD. RESULTS: At 13 years after OLTX, the incidence of severe renal dysfunction was 18.1% (CRF 8.6% and ESRD 9.5%). Compared with control patients, CRF and ESRD patients had higher preoperative serum creatinine levels, a greater percentage of patients with hepatorenal syndrome, higher percentage requirement for dialysis in the first 3 months postoperatively, and a higher 1-year serum creatinine. Multivariate stepwise logistic regression analysis using preoperative and postoperative variables identified that an increase of serum creatinine compared with average at 1 year, 3 months, and 4 weeks postoperatively were independent risk factors for the development of CRF or ESRD with odds ratios of 2.6, 2.2, and 1.6, respectively. Overall survival from the time of OLTX was not significantly different among groups, but by year 13, the survival of the patients who had ESRD was only 28.2% compared with 54.6% in the control group. Patients developing ESRD had a 6-year survival after onset of ESRD of 27% for the patients receiving hemodialysis versus 71.4% for the patients developing ESRD who subsequently received kidney transplants. CONCLUSIONS: Patients who are more than 10 years post-OLTX have CRF and ESRD at a high rate. The development of ESRD decreases survival, particularly in those patients treated with dialysis only. Patients who develop ESRD have a higher preoperative and 1-year serum creatinine and are more likely to have hepatorenal syndrome. However, an increase of serum creatinine at various times postoperatively is more predictive of the development of CRF or ESRD. New strategies for long-term immunosuppression may be needed to decrease this complication.
{ "name": "CRF", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "creatinine", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical cyclosporine and a disease nephrotoxic in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[cyclosporine,ChemicalEntity]' and '[nephrotoxic,DiseaseOrPhenotypicFeature]'. - Title of the Paper: End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment. - Abstract of the Paper: [BACKGROUND: The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic. Their use in orthotopic liver transplantation (OLTX) has dramatically improved success rates. Recently, however, we have had an increase of patients who are presenting after OLTX with end-stage renal disease (ESRD). This retrospective study examines the incidence and treatment of ESRD and chronic renal failure (CRF) in OLTX patients. METHODS: Patients receiving an OLTX only from June 1985 through December of 1994 who survived 6 months postoperatively were studied (n=834). Our prospectively collected database was the source of information. Patients were divided into three groups: Controls, no CRF or ESRD, n=748; CRF, sustained serum creatinine >2.5 mg/dl, n=41; and ESRD, n=45. Groups were compared for preoperative laboratory variables, diagnosis, postoperative variables, survival, type of ESRD therapy, and survival from onset of ESRD. RESULTS: At 13 years after OLTX, the incidence of severe renal dysfunction was 18.1% (CRF 8.6% and ESRD 9.5%). Compared with control patients, CRF and ESRD patients had higher preoperative serum creatinine levels, a greater percentage of patients with hepatorenal syndrome, higher percentage requirement for dialysis in the first 3 months postoperatively, and a higher 1-year serum creatinine. Multivariate stepwise logistic regression analysis using preoperative and postoperative variables identified that an increase of serum creatinine compared with average at 1 year, 3 months, and 4 weeks postoperatively were independent risk factors for the development of CRF or ESRD with odds ratios of 2.6, 2.2, and 1.6, respectively. Overall survival from the time of OLTX was not significantly different among groups, but by year 13, the survival of the patients who had ESRD was only 28.2% compared with 54.6% in the control group. Patients developing ESRD had a 6-year survival after onset of ESRD of 27% for the patients receiving hemodialysis versus 71.4% for the patients developing ESRD who subsequently received kidney transplants. CONCLUSIONS: Patients who are more than 10 years post-OLTX have CRF and ESRD at a high rate. The development of ESRD decreases survival, particularly in those patients treated with dialysis only. Patients who develop ESRD have a higher preoperative and 1-year serum creatinine and are more likely to have hepatorenal syndrome. However, an increase of serum creatinine at various times postoperatively is more predictive of the development of CRF or ESRD. New strategies for long-term immunosuppression may be needed to decrease this complication.] Identify how '[cyclosporine,ChemicalEntity]' and '[nephrotoxic,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment.
BACKGROUND: The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic. Their use in orthotopic liver transplantation (OLTX) has dramatically improved success rates. Recently, however, we have had an increase of patients who are presenting after OLTX with end-stage renal disease (ESRD). This retrospective study examines the incidence and treatment of ESRD and chronic renal failure (CRF) in OLTX patients. METHODS: Patients receiving an OLTX only from June 1985 through December of 1994 who survived 6 months postoperatively were studied (n=834). Our prospectively collected database was the source of information. Patients were divided into three groups: Controls, no CRF or ESRD, n=748; CRF, sustained serum creatinine >2.5 mg/dl, n=41; and ESRD, n=45. Groups were compared for preoperative laboratory variables, diagnosis, postoperative variables, survival, type of ESRD therapy, and survival from onset of ESRD. RESULTS: At 13 years after OLTX, the incidence of severe renal dysfunction was 18.1% (CRF 8.6% and ESRD 9.5%). Compared with control patients, CRF and ESRD patients had higher preoperative serum creatinine levels, a greater percentage of patients with hepatorenal syndrome, higher percentage requirement for dialysis in the first 3 months postoperatively, and a higher 1-year serum creatinine. Multivariate stepwise logistic regression analysis using preoperative and postoperative variables identified that an increase of serum creatinine compared with average at 1 year, 3 months, and 4 weeks postoperatively were independent risk factors for the development of CRF or ESRD with odds ratios of 2.6, 2.2, and 1.6, respectively. Overall survival from the time of OLTX was not significantly different among groups, but by year 13, the survival of the patients who had ESRD was only 28.2% compared with 54.6% in the control group. Patients developing ESRD had a 6-year survival after onset of ESRD of 27% for the patients receiving hemodialysis versus 71.4% for the patients developing ESRD who subsequently received kidney transplants. CONCLUSIONS: Patients who are more than 10 years post-OLTX have CRF and ESRD at a high rate. The development of ESRD decreases survival, particularly in those patients treated with dialysis only. Patients who develop ESRD have a higher preoperative and 1-year serum creatinine and are more likely to have hepatorenal syndrome. However, an increase of serum creatinine at various times postoperatively is more predictive of the development of CRF or ESRD. New strategies for long-term immunosuppression may be needed to decrease this complication.
{ "name": "cyclosporine", "type": "ChemicalEntity" }
{ "name": "nephrotoxic", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein SOD1 and a disease amyotrophic lateral sclerosis in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[SOD1,GeneOrGeneProduct]' and '[amyotrophic lateral sclerosis,DiseaseOrPhenotypicFeature]'. - Title of the Paper: D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype. - Abstract of the Paper: [More than 100 different heterozygous mutations in copper/zinc superoxide dismutase (SOD1) have been found in patients with amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. Uniquely, D90A-SOD1 has been identified in recessive, dominant and apparently sporadic pedigrees. The phenotype of homozygotes is stereotyped with an extended survival, whereas that of affected heterozygotes varies. The frequency of D90A-SOD1 is 50 times higher in Scandinavia (2.5%) than elsewhere, though ALS prevalence is not raised there. Our earlier study indicated separate founders for recessive and dominant/sporadic ALS and we proposed a disease-modifying factor linked to the recessive mutation. Here we have doubled our sample set and employed novel markers to characterise the mutation's origin and localise any modifying factor. Linkage disequilibrium analysis indicates that D90A homozygotes and heterozygotes share a rare haplotype and are all descended from a single ancient founder (alpha 0.974) c.895 generations ago. Homozygotes arose subsequently only c.63 generations ago (alpha 0.878). Recombination has reduced the region shared by recessive kindreds to 97-265 kb around SOD1, excluding all neighbouring genes. We propose that a cis-acting regulatory polymorphism has arisen close to D90A-SOD1 in the recessive founder, which decreases ALS susceptibility in heterozygotes and slows disease progression.] Identify how '[SOD1,GeneOrGeneProduct]' and '[amyotrophic lateral sclerosis,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype.
More than 100 different heterozygous mutations in copper/zinc superoxide dismutase (SOD1) have been found in patients with amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. Uniquely, D90A-SOD1 has been identified in recessive, dominant and apparently sporadic pedigrees. The phenotype of homozygotes is stereotyped with an extended survival, whereas that of affected heterozygotes varies. The frequency of D90A-SOD1 is 50 times higher in Scandinavia (2.5%) than elsewhere, though ALS prevalence is not raised there. Our earlier study indicated separate founders for recessive and dominant/sporadic ALS and we proposed a disease-modifying factor linked to the recessive mutation. Here we have doubled our sample set and employed novel markers to characterise the mutation's origin and localise any modifying factor. Linkage disequilibrium analysis indicates that D90A homozygotes and heterozygotes share a rare haplotype and are all descended from a single ancient founder (alpha 0.974) c.895 generations ago. Homozygotes arose subsequently only c.63 generations ago (alpha 0.878). Recombination has reduced the region shared by recessive kindreds to 97-265 kb around SOD1, excluding all neighbouring genes. We propose that a cis-acting regulatory polymorphism has arisen close to D90A-SOD1 in the recessive founder, which decreases ALS susceptibility in heterozygotes and slows disease progression.
{ "name": "SOD1", "type": "GeneOrGeneProduct" }
{ "name": "amyotrophic lateral sclerosis", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a variant D90A and a disease ALS in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[D90A,SequenceVariant]' and '[ALS,DiseaseOrPhenotypicFeature]'. - Title of the Paper: D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype. - Abstract of the Paper: [More than 100 different heterozygous mutations in copper/zinc superoxide dismutase (SOD1) have been found in patients with amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. Uniquely, D90A-SOD1 has been identified in recessive, dominant and apparently sporadic pedigrees. The phenotype of homozygotes is stereotyped with an extended survival, whereas that of affected heterozygotes varies. The frequency of D90A-SOD1 is 50 times higher in Scandinavia (2.5%) than elsewhere, though ALS prevalence is not raised there. Our earlier study indicated separate founders for recessive and dominant/sporadic ALS and we proposed a disease-modifying factor linked to the recessive mutation. Here we have doubled our sample set and employed novel markers to characterise the mutation's origin and localise any modifying factor. Linkage disequilibrium analysis indicates that D90A homozygotes and heterozygotes share a rare haplotype and are all descended from a single ancient founder (alpha 0.974) c.895 generations ago. Homozygotes arose subsequently only c.63 generations ago (alpha 0.878). Recombination has reduced the region shared by recessive kindreds to 97-265 kb around SOD1, excluding all neighbouring genes. We propose that a cis-acting regulatory polymorphism has arisen close to D90A-SOD1 in the recessive founder, which decreases ALS susceptibility in heterozygotes and slows disease progression.] Identify how '[D90A,SequenceVariant]' and '[ALS,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Negative_Correlation</s>
D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype.
More than 100 different heterozygous mutations in copper/zinc superoxide dismutase (SOD1) have been found in patients with amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. Uniquely, D90A-SOD1 has been identified in recessive, dominant and apparently sporadic pedigrees. The phenotype of homozygotes is stereotyped with an extended survival, whereas that of affected heterozygotes varies. The frequency of D90A-SOD1 is 50 times higher in Scandinavia (2.5%) than elsewhere, though ALS prevalence is not raised there. Our earlier study indicated separate founders for recessive and dominant/sporadic ALS and we proposed a disease-modifying factor linked to the recessive mutation. Here we have doubled our sample set and employed novel markers to characterise the mutation's origin and localise any modifying factor. Linkage disequilibrium analysis indicates that D90A homozygotes and heterozygotes share a rare haplotype and are all descended from a single ancient founder (alpha 0.974) c.895 generations ago. Homozygotes arose subsequently only c.63 generations ago (alpha 0.878). Recombination has reduced the region shared by recessive kindreds to 97-265 kb around SOD1, excluding all neighbouring genes. We propose that a cis-acting regulatory polymorphism has arisen close to D90A-SOD1 in the recessive founder, which decreases ALS susceptibility in heterozygotes and slows disease progression.
{ "name": "D90A", "type": "SequenceVariant" }
{ "name": "ALS", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Negative_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein arylsulfatase A and a disease metachromatic leukodystrophy in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[arylsulfatase A,GeneOrGeneProduct]' and '[metachromatic leukodystrophy,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. - Abstract of the Paper: [We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. A comparison of genotypes, ARSA activities, and clinical data on 4 individuals carrying the allele of 81 patients with MLD examined, further validates the concept that different degrees of residual ARSA activity are the basis of phenotypical variation in MLD.. ] Identify how '[arylsulfatase A,GeneOrGeneProduct]' and '[metachromatic leukodystrophy,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.
We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. A comparison of genotypes, ARSA activities, and clinical data on 4 individuals carrying the allele of 81 patients with MLD examined, further validates the concept that different degrees of residual ARSA activity are the basis of phenotypical variation in MLD..
{ "name": "arylsulfatase A", "type": "GeneOrGeneProduct" }
{ "name": "metachromatic leukodystrophy", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a variant arginine84 and a disease MLD in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[arginine84,SequenceVariant]' and '[MLD,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. - Abstract of the Paper: [We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. A comparison of genotypes, ARSA activities, and clinical data on 4 individuals carrying the allele of 81 patients with MLD examined, further validates the concept that different degrees of residual ARSA activity are the basis of phenotypical variation in MLD.. ] Identify how '[arginine84,SequenceVariant]' and '[MLD,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.
We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. A comparison of genotypes, ARSA activities, and clinical data on 4 individuals carrying the allele of 81 patients with MLD examined, further validates the concept that different degrees of residual ARSA activity are the basis of phenotypical variation in MLD..
{ "name": "arginine84", "type": "SequenceVariant" }
{ "name": "MLD", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein GJB2 and a disease non-syndromic autosomal recessive deafness in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[GJB2,GeneOrGeneProduct]' and '[non-syndromic autosomal recessive deafness,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants. - Abstract of the Paper: [A large proportion of non-syndromic autosomal recessive deafness (NSARD) in many populations is caused by variants of the GJB2 gene. Here, the frequency of GJB2 variants was studied in 406 and 183 apparently unrelated children from Kenya and Sudan, respectively, with mostly severe to profound non-syndromic deafness. Nine (2.2 %) Kenyan and 12 (6.6 %) of the Sudanese children only were carriers of variants within the coding sequence of the GJB2 gene. Variants in the 5'-adjacent region were detected in further 115 individuals. A total of 10 novel variants was recognized, among them four variants in the adjacent 5'-region of the GJB2 coding exon 2 (g.3318-6T>A, g.3318-15C>T, g.3318-34C>T, g.3318-35T>G), a 6 base-pair deletion (g.3455_3460del [p.Asp46_Gln48delinsGlu]), a variant leading to a stop codon (g.3512C>A [p.Tyr65X]), synonymous variants (g.3395C>T [p.Thr26], g.3503C>T [p.Asn62], g.3627A>C [p.Arg104]), and one non-synonymous variant (g.3816C>A [p.Val167Met]). In addition, the previously described variants g.3352delG (commonly designated 30delG or 35 delG), g.3426G>A [p.Val37Ile], g.3697G>A [p.Arg127His], g.3774G>A [p.Val153Ile], and g.3795G>A [p.Gly160Ser] were identified. With the exception of g.3318-34C>T and g.3352delG, all variants occurred heterozygously. For most of the variants identified in the Kenyan and Sudanese study population, a causative association with NSARD appears to be unlikely. Compared to many other ethnic groups, deafness-associated variants of the coding region of GJB2 are rare in Sudan and Kenya, suggesting a role of other genetic, or epigenetic factors as a cause for deafness in these countries.] Identify how '[GJB2,GeneOrGeneProduct]' and '[non-syndromic autosomal recessive deafness,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants.
A large proportion of non-syndromic autosomal recessive deafness (NSARD) in many populations is caused by variants of the GJB2 gene. Here, the frequency of GJB2 variants was studied in 406 and 183 apparently unrelated children from Kenya and Sudan, respectively, with mostly severe to profound non-syndromic deafness. Nine (2.2 %) Kenyan and 12 (6.6 %) of the Sudanese children only were carriers of variants within the coding sequence of the GJB2 gene. Variants in the 5'-adjacent region were detected in further 115 individuals. A total of 10 novel variants was recognized, among them four variants in the adjacent 5'-region of the GJB2 coding exon 2 (g.3318-6T>A, g.3318-15C>T, g.3318-34C>T, g.3318-35T>G), a 6 base-pair deletion (g.3455_3460del [p.Asp46_Gln48delinsGlu]), a variant leading to a stop codon (g.3512C>A [p.Tyr65X]), synonymous variants (g.3395C>T [p.Thr26], g.3503C>T [p.Asn62], g.3627A>C [p.Arg104]), and one non-synonymous variant (g.3816C>A [p.Val167Met]). In addition, the previously described variants g.3352delG (commonly designated 30delG or 35 delG), g.3426G>A [p.Val37Ile], g.3697G>A [p.Arg127His], g.3774G>A [p.Val153Ile], and g.3795G>A [p.Gly160Ser] were identified. With the exception of g.3318-34C>T and g.3352delG, all variants occurred heterozygously. For most of the variants identified in the Kenyan and Sudanese study population, a causative association with NSARD appears to be unlikely. Compared to many other ethnic groups, deafness-associated variants of the coding region of GJB2 are rare in Sudan and Kenya, suggesting a role of other genetic, or epigenetic factors as a cause for deafness in these countries.
{ "name": "GJB2", "type": "GeneOrGeneProduct" }
{ "name": "non-syndromic autosomal recessive deafness", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a variant N157K and a disease autosomal dominant hypercholesterolemia in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[N157K,SequenceVariant]' and '[autosomal dominant hypercholesterolemia,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. - Abstract of the Paper: [Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gene have previously been found to segregate with hypercholesterolemia. In this study, DNA sequencing of the 12 exons of the PCSK9 gene has been performed in 51 Norwegian subjects with a clinical diagnosis of familial hypercholesterolemia where mutations in the low-density lipoprotein receptor gene and mutation R3500Q in the apolipoprotein B-100 gene had been excluded. Two novel missense mutations were detected in the catalytic subdomain of the PCSK9 gene. Two patients were heterozygotes for D374Y, and one patient was a double heterozygote for D374Y and N157K. D374Y segregated with hypercholesterolemia in the two former families where family members were available for study. Our findings support the notion that mutations in the PCSK9 gene cause autosomal dominant hypercholesterolemia.] Identify how '[N157K,SequenceVariant]' and '[autosomal dominant hypercholesterolemia,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gene have previously been found to segregate with hypercholesterolemia. In this study, DNA sequencing of the 12 exons of the PCSK9 gene has been performed in 51 Norwegian subjects with a clinical diagnosis of familial hypercholesterolemia where mutations in the low-density lipoprotein receptor gene and mutation R3500Q in the apolipoprotein B-100 gene had been excluded. Two novel missense mutations were detected in the catalytic subdomain of the PCSK9 gene. Two patients were heterozygotes for D374Y, and one patient was a double heterozygote for D374Y and N157K. D374Y segregated with hypercholesterolemia in the two former families where family members were available for study. Our findings support the notion that mutations in the PCSK9 gene cause autosomal dominant hypercholesterolemia.
{ "name": "N157K", "type": "SequenceVariant" }
{ "name": "autosomal dominant hypercholesterolemia", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease autosomal dominant hypercholesterolemia and a gene or protein PCSK9 in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a protein or gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or drug) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[autosomal dominant hypercholesterolemia,DiseaseOrPhenotypicFeature]' and '[PCSK9,GeneOrGeneProduct]'. - Title of the Paper: Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. - Abstract of the Paper: [Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gene have previously been found to segregate with hypercholesterolemia. In this study, DNA sequencing of the 12 exons of the PCSK9 gene has been performed in 51 Norwegian subjects with a clinical diagnosis of familial hypercholesterolemia where mutations in the low-density lipoprotein receptor gene and mutation R3500Q in the apolipoprotein B-100 gene had been excluded. Two novel missense mutations were detected in the catalytic subdomain of the PCSK9 gene. Two patients were heterozygotes for D374Y, and one patient was a double heterozygote for D374Y and N157K. D374Y segregated with hypercholesterolemia in the two former families where family members were available for study. Our findings support the notion that mutations in the PCSK9 gene cause autosomal dominant hypercholesterolemia.] Identify how '[autosomal dominant hypercholesterolemia,DiseaseOrPhenotypicFeature]' and '[PCSK9,GeneOrGeneProduct]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gene have previously been found to segregate with hypercholesterolemia. In this study, DNA sequencing of the 12 exons of the PCSK9 gene has been performed in 51 Norwegian subjects with a clinical diagnosis of familial hypercholesterolemia where mutations in the low-density lipoprotein receptor gene and mutation R3500Q in the apolipoprotein B-100 gene had been excluded. Two novel missense mutations were detected in the catalytic subdomain of the PCSK9 gene. Two patients were heterozygotes for D374Y, and one patient was a double heterozygote for D374Y and N157K. D374Y segregated with hypercholesterolemia in the two former families where family members were available for study. Our findings support the notion that mutations in the PCSK9 gene cause autosomal dominant hypercholesterolemia.
{ "name": "autosomal dominant hypercholesterolemia", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "PCSK9", "type": "GeneOrGeneProduct" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein PCSK9 and a chemical cholesterol in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a chemical leads to higher gene expression, or higher gene expression increases sensitivity to the chemical, or a gene variant exacerbates the chemical's side effects, or a gene causes an over-response to the chemical, or there is a positive interaction between two genes in any manner. 'Negative_Correlation' indicates that a chemical leads to reduced gene expression, or higher gene expression results in decreased sensitivity or resistance to the chemical, or a gene variant offers protection against the chemical's adverse effects, or a gene contributes to resistance against the chemical, or there exists a negative interaction between two genes in any form. 'Bind' means that a chemical either connects to a gene's promoter region or a protein acts as a receptor for that chemical. 'Association' is used to describe relation that don't clearly fall under categories like positive correlation, negative correlation and bind , or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[PCSK9,GeneOrGeneProduct]' and '[cholesterol,ChemicalEntity]'. - Title of the Paper: Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. - Abstract of the Paper: [Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gene have previously been found to segregate with hypercholesterolemia. In this study, DNA sequencing of the 12 exons of the PCSK9 gene has been performed in 51 Norwegian subjects with a clinical diagnosis of familial hypercholesterolemia where mutations in the low-density lipoprotein receptor gene and mutation R3500Q in the apolipoprotein B-100 gene had been excluded. Two novel missense mutations were detected in the catalytic subdomain of the PCSK9 gene. Two patients were heterozygotes for D374Y, and one patient was a double heterozygote for D374Y and N157K. D374Y segregated with hypercholesterolemia in the two former families where family members were available for study. Our findings support the notion that mutations in the PCSK9 gene cause autosomal dominant hypercholesterolemia.] Identify how '[PCSK9,GeneOrGeneProduct]' and '[cholesterol,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. [/INST]Association</s>
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gene have previously been found to segregate with hypercholesterolemia. In this study, DNA sequencing of the 12 exons of the PCSK9 gene has been performed in 51 Norwegian subjects with a clinical diagnosis of familial hypercholesterolemia where mutations in the low-density lipoprotein receptor gene and mutation R3500Q in the apolipoprotein B-100 gene had been excluded. Two novel missense mutations were detected in the catalytic subdomain of the PCSK9 gene. Two patients were heterozygotes for D374Y, and one patient was a double heterozygote for D374Y and N157K. D374Y segregated with hypercholesterolemia in the two former families where family members were available for study. Our findings support the notion that mutations in the PCSK9 gene cause autosomal dominant hypercholesterolemia.
{ "name": "PCSK9", "type": "GeneOrGeneProduct" }
{ "name": "cholesterol", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Bind", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein PCSK9 and a disease hypercholesterolemia in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[PCSK9,GeneOrGeneProduct]' and '[hypercholesterolemia,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. - Abstract of the Paper: [Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gene have previously been found to segregate with hypercholesterolemia. In this study, DNA sequencing of the 12 exons of the PCSK9 gene has been performed in 51 Norwegian subjects with a clinical diagnosis of familial hypercholesterolemia where mutations in the low-density lipoprotein receptor gene and mutation R3500Q in the apolipoprotein B-100 gene had been excluded. Two novel missense mutations were detected in the catalytic subdomain of the PCSK9 gene. Two patients were heterozygotes for D374Y, and one patient was a double heterozygote for D374Y and N157K. D374Y segregated with hypercholesterolemia in the two former families where family members were available for study. Our findings support the notion that mutations in the PCSK9 gene cause autosomal dominant hypercholesterolemia.] Identify how '[PCSK9,GeneOrGeneProduct]' and '[hypercholesterolemia,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gene have previously been found to segregate with hypercholesterolemia. In this study, DNA sequencing of the 12 exons of the PCSK9 gene has been performed in 51 Norwegian subjects with a clinical diagnosis of familial hypercholesterolemia where mutations in the low-density lipoprotein receptor gene and mutation R3500Q in the apolipoprotein B-100 gene had been excluded. Two novel missense mutations were detected in the catalytic subdomain of the PCSK9 gene. Two patients were heterozygotes for D374Y, and one patient was a double heterozygote for D374Y and N157K. D374Y segregated with hypercholesterolemia in the two former families where family members were available for study. Our findings support the notion that mutations in the PCSK9 gene cause autosomal dominant hypercholesterolemia.
{ "name": "PCSK9", "type": "GeneOrGeneProduct" }
{ "name": "hypercholesterolemia", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a variant D374Y and a disease autosomal dominant hypercholesterolemia in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[D374Y,SequenceVariant]' and '[autosomal dominant hypercholesterolemia,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. - Abstract of the Paper: [Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gene have previously been found to segregate with hypercholesterolemia. In this study, DNA sequencing of the 12 exons of the PCSK9 gene has been performed in 51 Norwegian subjects with a clinical diagnosis of familial hypercholesterolemia where mutations in the low-density lipoprotein receptor gene and mutation R3500Q in the apolipoprotein B-100 gene had been excluded. Two novel missense mutations were detected in the catalytic subdomain of the PCSK9 gene. Two patients were heterozygotes for D374Y, and one patient was a double heterozygote for D374Y and N157K. D374Y segregated with hypercholesterolemia in the two former families where family members were available for study. Our findings support the notion that mutations in the PCSK9 gene cause autosomal dominant hypercholesterolemia.] Identify how '[D374Y,SequenceVariant]' and '[autosomal dominant hypercholesterolemia,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gene have previously been found to segregate with hypercholesterolemia. In this study, DNA sequencing of the 12 exons of the PCSK9 gene has been performed in 51 Norwegian subjects with a clinical diagnosis of familial hypercholesterolemia where mutations in the low-density lipoprotein receptor gene and mutation R3500Q in the apolipoprotein B-100 gene had been excluded. Two novel missense mutations were detected in the catalytic subdomain of the PCSK9 gene. Two patients were heterozygotes for D374Y, and one patient was a double heterozygote for D374Y and N157K. D374Y segregated with hypercholesterolemia in the two former families where family members were available for study. Our findings support the notion that mutations in the PCSK9 gene cause autosomal dominant hypercholesterolemia.
{ "name": "D374Y", "type": "SequenceVariant" }
{ "name": "autosomal dominant hypercholesterolemia", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease hypercholesterolemia and a variant D374Y in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[hypercholesterolemia,DiseaseOrPhenotypicFeature]' and '[D374Y,SequenceVariant]'. - Title of the Paper: Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. - Abstract of the Paper: [Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gene have previously been found to segregate with hypercholesterolemia. In this study, DNA sequencing of the 12 exons of the PCSK9 gene has been performed in 51 Norwegian subjects with a clinical diagnosis of familial hypercholesterolemia where mutations in the low-density lipoprotein receptor gene and mutation R3500Q in the apolipoprotein B-100 gene had been excluded. Two novel missense mutations were detected in the catalytic subdomain of the PCSK9 gene. Two patients were heterozygotes for D374Y, and one patient was a double heterozygote for D374Y and N157K. D374Y segregated with hypercholesterolemia in the two former families where family members were available for study. Our findings support the notion that mutations in the PCSK9 gene cause autosomal dominant hypercholesterolemia.] Identify how '[hypercholesterolemia,DiseaseOrPhenotypicFeature]' and '[D374Y,SequenceVariant]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gene have previously been found to segregate with hypercholesterolemia. In this study, DNA sequencing of the 12 exons of the PCSK9 gene has been performed in 51 Norwegian subjects with a clinical diagnosis of familial hypercholesterolemia where mutations in the low-density lipoprotein receptor gene and mutation R3500Q in the apolipoprotein B-100 gene had been excluded. Two novel missense mutations were detected in the catalytic subdomain of the PCSK9 gene. Two patients were heterozygotes for D374Y, and one patient was a double heterozygote for D374Y and N157K. D374Y segregated with hypercholesterolemia in the two former families where family members were available for study. Our findings support the notion that mutations in the PCSK9 gene cause autosomal dominant hypercholesterolemia.
{ "name": "hypercholesterolemia", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "D374Y", "type": "SequenceVariant" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein alpha-B crystallin and a disease DRM in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[alpha-B crystallin,GeneOrGeneProduct]' and '[DRM,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. - Abstract of the Paper: [Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies.] Identify how '[alpha-B crystallin,GeneOrGeneProduct]' and '[DRM,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies.
{ "name": "alpha-B crystallin", "type": "GeneOrGeneProduct" }
{ "name": "DRM", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein desmin and a disease DRMs in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[desmin,GeneOrGeneProduct]' and '[DRMs,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. - Abstract of the Paper: [Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies.] Identify how '[desmin,GeneOrGeneProduct]' and '[DRMs,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies.
{ "name": "desmin", "type": "GeneOrGeneProduct" }
{ "name": "DRMs", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein SEPN1 and a disease multiminicore disease in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[SEPN1,GeneOrGeneProduct]' and '[multiminicore disease,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. - Abstract of the Paper: [Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies.] Identify how '[SEPN1,GeneOrGeneProduct]' and '[multiminicore disease,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies.
{ "name": "SEPN1", "type": "GeneOrGeneProduct" }
{ "name": "multiminicore disease", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein SEPN1 and a disease rigid spine muscular dystrophy in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[SEPN1,GeneOrGeneProduct]' and '[rigid spine muscular dystrophy,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. - Abstract of the Paper: [Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies.] Identify how '[SEPN1,GeneOrGeneProduct]' and '[rigid spine muscular dystrophy,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies.
{ "name": "SEPN1", "type": "GeneOrGeneProduct" }
{ "name": "rigid spine muscular dystrophy", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein SEPN1 and a disease SEPN-related myopathy in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[SEPN1,GeneOrGeneProduct]' and '[SEPN-related myopathy,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. - Abstract of the Paper: [Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies.] Identify how '[SEPN1,GeneOrGeneProduct]' and '[SEPN-related myopathy,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies.
{ "name": "SEPN1", "type": "GeneOrGeneProduct" }
{ "name": "SEPN-related myopathy", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease DRM and a variant del 92 nucleotide -19/+73 in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[DRM,DiseaseOrPhenotypicFeature]' and '[del 92 nucleotide -19/+73,SequenceVariant]'. - Title of the Paper: Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. - Abstract of the Paper: [Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies.] Identify how '[DRM,DiseaseOrPhenotypicFeature]' and '[del 92 nucleotide -19/+73,SequenceVariant]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies.
{ "name": "DRM", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "del 92 nucleotide -19/+73", "type": "SequenceVariant" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease Desmin-related myopathy and a gene or protein selenoprotein N in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a protein or gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or drug) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[Desmin-related myopathy,DiseaseOrPhenotypicFeature]' and '[selenoprotein N,GeneOrGeneProduct]'. - Title of the Paper: Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. - Abstract of the Paper: [Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies.] Identify how '[Desmin-related myopathy,DiseaseOrPhenotypicFeature]' and '[selenoprotein N,GeneOrGeneProduct]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. The finding of Mallory body-like inclusions in two cases of genetically documented SEPN-RM led us to suspect a relationship between MB-DRM and SEPN1. In the original MB-DRM German family, we demonstrated a linkage of the disease to the SEPN1 locus (1p36), and subsequently a homozygous SEPN1 deletion (del 92 nucleotide -19/+73) in the affected patients. A comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies.
{ "name": "Desmin-related myopathy", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "selenoprotein N", "type": "GeneOrGeneProduct" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein Tuple1 and a disease DiGeorge and Velocardiofacial syndromes in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[Tuple1,GeneOrGeneProduct]' and '[DiGeorge and Velocardiofacial syndromes,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes. - Abstract of the Paper: [DiGeorge and Velocardiofacial syndromes (DGS/VCFS) are endowed by a similar complex phenotype including cardiovascular, craniofacial, and thymic malformations, and are associated with heterozygous deletions of 22q11 chromosomal band. The Typically Deleted Region in the 22q11.21 subband (here called TDR22) is very gene-dense, and the extent of the deletion has been defined precisely in several studies. However, to date there is no evidence for a mechanism of haploinsufficiency that can fully explain the DGS/VCFS phenotype. In this study, we show that the candidate gene HIRA/Tuple1 mapping on the non-deleted TDR22, in DGS/VCFS subjects presents a delayed replication timing. Moreover, we observed an increase in the cell ratio showing the HIRA/Tuple1 locus localised toward the nuclear periphery. It is known that replication timing and nuclear location are generally correlated to the transcription activity of the relative DNA region. We propose that the alteration in the replication/nuclear location pattern of the non-deleted TDR22 indicates an altered gene regulation hence an altered transcritpion in DGS/VCFS.] Identify how '[Tuple1,GeneOrGeneProduct]' and '[DiGeorge and Velocardiofacial syndromes,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes.
DiGeorge and Velocardiofacial syndromes (DGS/VCFS) are endowed by a similar complex phenotype including cardiovascular, craniofacial, and thymic malformations, and are associated with heterozygous deletions of 22q11 chromosomal band. The Typically Deleted Region in the 22q11.21 subband (here called TDR22) is very gene-dense, and the extent of the deletion has been defined precisely in several studies. However, to date there is no evidence for a mechanism of haploinsufficiency that can fully explain the DGS/VCFS phenotype. In this study, we show that the candidate gene HIRA/Tuple1 mapping on the non-deleted TDR22, in DGS/VCFS subjects presents a delayed replication timing. Moreover, we observed an increase in the cell ratio showing the HIRA/Tuple1 locus localised toward the nuclear periphery. It is known that replication timing and nuclear location are generally correlated to the transcription activity of the relative DNA region. We propose that the alteration in the replication/nuclear location pattern of the non-deleted TDR22 indicates an altered gene regulation hence an altered transcritpion in DGS/VCFS.
{ "name": "Tuple1", "type": "GeneOrGeneProduct" }
{ "name": "DiGeorge and Velocardiofacial syndromes", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical Catecholamine and a disease cardiomyopathy in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[Catecholamine,ChemicalEntity]' and '[cardiomyopathy,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Severe reversible left ventricular systolic and diastolic dysfunction due to accidental iatrogenic epinephrine overdose. - Abstract of the Paper: [Catecholamine-induced cardiomyopathy due to chronic excess of endogenous catecholamines has been recognized for decades as a clinical phenomenon. In contrast, reports of myocardial dysfunction due to acute iatrogenic overdose are rare. A 35-year-old woman whose cervix uteri was inadvertently injected with 8 mg of epinephrine developed myocardial stunning that was characterized by severe hemodynamic compromise, profound, albeit transient, left ventricular systolic and diastolic dysfunction, and only modestly elevated biochemical markers of myocardial necrosis. Our case illustrates the serious consequences of medical errors that can be avoided through improved medication labeling and staff supervision.] Identify how '[Catecholamine,ChemicalEntity]' and '[cardiomyopathy,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Severe reversible left ventricular systolic and diastolic dysfunction due to accidental iatrogenic epinephrine overdose.
Catecholamine-induced cardiomyopathy due to chronic excess of endogenous catecholamines has been recognized for decades as a clinical phenomenon. In contrast, reports of myocardial dysfunction due to acute iatrogenic overdose are rare. A 35-year-old woman whose cervix uteri was inadvertently injected with 8 mg of epinephrine developed myocardial stunning that was characterized by severe hemodynamic compromise, profound, albeit transient, left ventricular systolic and diastolic dysfunction, and only modestly elevated biochemical markers of myocardial necrosis. Our case illustrates the serious consequences of medical errors that can be avoided through improved medication labeling and staff supervision.
{ "name": "Catecholamine", "type": "ChemicalEntity" }
{ "name": "cardiomyopathy", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease cardiomyopathy and a chemical epinephrine in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[cardiomyopathy,DiseaseOrPhenotypicFeature]' and '[epinephrine,ChemicalEntity]'. - Title of the Paper: Severe reversible left ventricular systolic and diastolic dysfunction due to accidental iatrogenic epinephrine overdose. - Abstract of the Paper: [Catecholamine-induced cardiomyopathy due to chronic excess of endogenous catecholamines has been recognized for decades as a clinical phenomenon. In contrast, reports of myocardial dysfunction due to acute iatrogenic overdose are rare. A 35-year-old woman whose cervix uteri was inadvertently injected with 8 mg of epinephrine developed myocardial stunning that was characterized by severe hemodynamic compromise, profound, albeit transient, left ventricular systolic and diastolic dysfunction, and only modestly elevated biochemical markers of myocardial necrosis. Our case illustrates the serious consequences of medical errors that can be avoided through improved medication labeling and staff supervision.] Identify how '[cardiomyopathy,DiseaseOrPhenotypicFeature]' and '[epinephrine,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Severe reversible left ventricular systolic and diastolic dysfunction due to accidental iatrogenic epinephrine overdose.
Catecholamine-induced cardiomyopathy due to chronic excess of endogenous catecholamines has been recognized for decades as a clinical phenomenon. In contrast, reports of myocardial dysfunction due to acute iatrogenic overdose are rare. A 35-year-old woman whose cervix uteri was inadvertently injected with 8 mg of epinephrine developed myocardial stunning that was characterized by severe hemodynamic compromise, profound, albeit transient, left ventricular systolic and diastolic dysfunction, and only modestly elevated biochemical markers of myocardial necrosis. Our case illustrates the serious consequences of medical errors that can be avoided through improved medication labeling and staff supervision.
{ "name": "cardiomyopathy", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "epinephrine", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical epinephrine and a disease myocardial stunning in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[epinephrine,ChemicalEntity]' and '[myocardial stunning,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Severe reversible left ventricular systolic and diastolic dysfunction due to accidental iatrogenic epinephrine overdose. - Abstract of the Paper: [Catecholamine-induced cardiomyopathy due to chronic excess of endogenous catecholamines has been recognized for decades as a clinical phenomenon. In contrast, reports of myocardial dysfunction due to acute iatrogenic overdose are rare. A 35-year-old woman whose cervix uteri was inadvertently injected with 8 mg of epinephrine developed myocardial stunning that was characterized by severe hemodynamic compromise, profound, albeit transient, left ventricular systolic and diastolic dysfunction, and only modestly elevated biochemical markers of myocardial necrosis. Our case illustrates the serious consequences of medical errors that can be avoided through improved medication labeling and staff supervision.] Identify how '[epinephrine,ChemicalEntity]' and '[myocardial stunning,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Severe reversible left ventricular systolic and diastolic dysfunction due to accidental iatrogenic epinephrine overdose.
Catecholamine-induced cardiomyopathy due to chronic excess of endogenous catecholamines has been recognized for decades as a clinical phenomenon. In contrast, reports of myocardial dysfunction due to acute iatrogenic overdose are rare. A 35-year-old woman whose cervix uteri was inadvertently injected with 8 mg of epinephrine developed myocardial stunning that was characterized by severe hemodynamic compromise, profound, albeit transient, left ventricular systolic and diastolic dysfunction, and only modestly elevated biochemical markers of myocardial necrosis. Our case illustrates the serious consequences of medical errors that can be avoided through improved medication labeling and staff supervision.
{ "name": "epinephrine", "type": "ChemicalEntity" }
{ "name": "myocardial stunning", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease left ventricular systolic and diastolic dysfunction and a chemical epinephrine in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[left ventricular systolic and diastolic dysfunction,DiseaseOrPhenotypicFeature]' and '[epinephrine,ChemicalEntity]'. - Title of the Paper: Severe reversible left ventricular systolic and diastolic dysfunction due to accidental iatrogenic epinephrine overdose. - Abstract of the Paper: [Catecholamine-induced cardiomyopathy due to chronic excess of endogenous catecholamines has been recognized for decades as a clinical phenomenon. In contrast, reports of myocardial dysfunction due to acute iatrogenic overdose are rare. A 35-year-old woman whose cervix uteri was inadvertently injected with 8 mg of epinephrine developed myocardial stunning that was characterized by severe hemodynamic compromise, profound, albeit transient, left ventricular systolic and diastolic dysfunction, and only modestly elevated biochemical markers of myocardial necrosis. Our case illustrates the serious consequences of medical errors that can be avoided through improved medication labeling and staff supervision.] Identify how '[left ventricular systolic and diastolic dysfunction,DiseaseOrPhenotypicFeature]' and '[epinephrine,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Severe reversible left ventricular systolic and diastolic dysfunction due to accidental iatrogenic epinephrine overdose.
Catecholamine-induced cardiomyopathy due to chronic excess of endogenous catecholamines has been recognized for decades as a clinical phenomenon. In contrast, reports of myocardial dysfunction due to acute iatrogenic overdose are rare. A 35-year-old woman whose cervix uteri was inadvertently injected with 8 mg of epinephrine developed myocardial stunning that was characterized by severe hemodynamic compromise, profound, albeit transient, left ventricular systolic and diastolic dysfunction, and only modestly elevated biochemical markers of myocardial necrosis. Our case illustrates the serious consequences of medical errors that can be avoided through improved medication labeling and staff supervision.
{ "name": "left ventricular systolic and diastolic dysfunction", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "epinephrine", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease thrombotic and a chemical aspirin in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[thrombotic,DiseaseOrPhenotypicFeature]' and '[aspirin,ChemicalEntity]'. - Title of the Paper: Effects of the cyclooxygenase-2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis. - Abstract of the Paper: [There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase (COX)-2-specific inhibitors than nonselective nonsteroidal antiinflammatory drugs (NSAIDs). We evaluated cardiovascular event data for valdecoxib, a new COX-2-specific inhibitor in approximately 8000 patients with osteoarthritis and rheumatoid arthritis treated with this agent in randomized clinical trials. The incidence of cardiovascular thrombotic events (cardiac, cerebrovascular and peripheral vascular, or arterial thrombotic) was determined by analyzing pooled valdecoxib (10-80 mg daily), nonselective NSAID (diclofenac 75 mg bid, ibuprofen 800 mg tid, or naproxen 500 mg bid) and placebo data from 10 randomized osteoarthritis and rheumatoid arthritis trials that were 6-52 weeks in duration. The incidence rates of events were determined in all patients (n = 7934) and in users of low-dose (< or =325 mg daily) aspirin (n = 1051) and nonusers of aspirin (n = 6883). Crude and exposure-adjusted incidences of thrombotic events were similar for valdecoxib, NSAIDs, and placebo. The risk of serious thrombotic events was also similar for each valdecoxib dose. Thrombotic risk was consistently higher for users of aspirin users than nonusers of aspirin (placebo, 1.4% vs. 0%; valdecoxib, 1.7% vs. 0.2%; NSAIDs, 1.9% vs. 0.5%). The rates of events in users of aspirin were similar for all 3 treatment groups and across valdecoxib doses. Short- and intermediate-term treatment with therapeutic (10 or 20 mg daily) and supratherapeutic (40 or 80 mg daily) valdecoxib doses was not associated with an increased incidence of thrombotic events relative to nonselective NSAIDs or placebo in osteoarthritis and rheumatoid arthritis patients in controlled clinical trials.] Identify how '[thrombotic,DiseaseOrPhenotypicFeature]' and '[aspirin,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Effects of the cyclooxygenase-2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis.
There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase (COX)-2-specific inhibitors than nonselective nonsteroidal antiinflammatory drugs (NSAIDs). We evaluated cardiovascular event data for valdecoxib, a new COX-2-specific inhibitor in approximately 8000 patients with osteoarthritis and rheumatoid arthritis treated with this agent in randomized clinical trials. The incidence of cardiovascular thrombotic events (cardiac, cerebrovascular and peripheral vascular, or arterial thrombotic) was determined by analyzing pooled valdecoxib (10-80 mg daily), nonselective NSAID (diclofenac 75 mg bid, ibuprofen 800 mg tid, or naproxen 500 mg bid) and placebo data from 10 randomized osteoarthritis and rheumatoid arthritis trials that were 6-52 weeks in duration. The incidence rates of events were determined in all patients (n = 7934) and in users of low-dose (< or =325 mg daily) aspirin (n = 1051) and nonusers of aspirin (n = 6883). Crude and exposure-adjusted incidences of thrombotic events were similar for valdecoxib, NSAIDs, and placebo. The risk of serious thrombotic events was also similar for each valdecoxib dose. Thrombotic risk was consistently higher for users of aspirin users than nonusers of aspirin (placebo, 1.4% vs. 0%; valdecoxib, 1.7% vs. 0.2%; NSAIDs, 1.9% vs. 0.5%). The rates of events in users of aspirin were similar for all 3 treatment groups and across valdecoxib doses. Short- and intermediate-term treatment with therapeutic (10 or 20 mg daily) and supratherapeutic (40 or 80 mg daily) valdecoxib doses was not associated with an increased incidence of thrombotic events relative to nonselective NSAIDs or placebo in osteoarthritis and rheumatoid arthritis patients in controlled clinical trials.
{ "name": "thrombotic", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "aspirin", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical valdecoxib and a disease rheumatoid arthritis in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[valdecoxib,ChemicalEntity]' and '[rheumatoid arthritis,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Effects of the cyclooxygenase-2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis. - Abstract of the Paper: [There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase (COX)-2-specific inhibitors than nonselective nonsteroidal antiinflammatory drugs (NSAIDs). We evaluated cardiovascular event data for valdecoxib, a new COX-2-specific inhibitor in approximately 8000 patients with osteoarthritis and rheumatoid arthritis treated with this agent in randomized clinical trials. The incidence of cardiovascular thrombotic events (cardiac, cerebrovascular and peripheral vascular, or arterial thrombotic) was determined by analyzing pooled valdecoxib (10-80 mg daily), nonselective NSAID (diclofenac 75 mg bid, ibuprofen 800 mg tid, or naproxen 500 mg bid) and placebo data from 10 randomized osteoarthritis and rheumatoid arthritis trials that were 6-52 weeks in duration. The incidence rates of events were determined in all patients (n = 7934) and in users of low-dose (< or =325 mg daily) aspirin (n = 1051) and nonusers of aspirin (n = 6883). Crude and exposure-adjusted incidences of thrombotic events were similar for valdecoxib, NSAIDs, and placebo. The risk of serious thrombotic events was also similar for each valdecoxib dose. Thrombotic risk was consistently higher for users of aspirin users than nonusers of aspirin (placebo, 1.4% vs. 0%; valdecoxib, 1.7% vs. 0.2%; NSAIDs, 1.9% vs. 0.5%). The rates of events in users of aspirin were similar for all 3 treatment groups and across valdecoxib doses. Short- and intermediate-term treatment with therapeutic (10 or 20 mg daily) and supratherapeutic (40 or 80 mg daily) valdecoxib doses was not associated with an increased incidence of thrombotic events relative to nonselective NSAIDs or placebo in osteoarthritis and rheumatoid arthritis patients in controlled clinical trials.] Identify how '[valdecoxib,ChemicalEntity]' and '[rheumatoid arthritis,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Negative_Correlation</s>
Effects of the cyclooxygenase-2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis.
There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase (COX)-2-specific inhibitors than nonselective nonsteroidal antiinflammatory drugs (NSAIDs). We evaluated cardiovascular event data for valdecoxib, a new COX-2-specific inhibitor in approximately 8000 patients with osteoarthritis and rheumatoid arthritis treated with this agent in randomized clinical trials. The incidence of cardiovascular thrombotic events (cardiac, cerebrovascular and peripheral vascular, or arterial thrombotic) was determined by analyzing pooled valdecoxib (10-80 mg daily), nonselective NSAID (diclofenac 75 mg bid, ibuprofen 800 mg tid, or naproxen 500 mg bid) and placebo data from 10 randomized osteoarthritis and rheumatoid arthritis trials that were 6-52 weeks in duration. The incidence rates of events were determined in all patients (n = 7934) and in users of low-dose (< or =325 mg daily) aspirin (n = 1051) and nonusers of aspirin (n = 6883). Crude and exposure-adjusted incidences of thrombotic events were similar for valdecoxib, NSAIDs, and placebo. The risk of serious thrombotic events was also similar for each valdecoxib dose. Thrombotic risk was consistently higher for users of aspirin users than nonusers of aspirin (placebo, 1.4% vs. 0%; valdecoxib, 1.7% vs. 0.2%; NSAIDs, 1.9% vs. 0.5%). The rates of events in users of aspirin were similar for all 3 treatment groups and across valdecoxib doses. Short- and intermediate-term treatment with therapeutic (10 or 20 mg daily) and supratherapeutic (40 or 80 mg daily) valdecoxib doses was not associated with an increased incidence of thrombotic events relative to nonselective NSAIDs or placebo in osteoarthritis and rheumatoid arthritis patients in controlled clinical trials.
{ "name": "valdecoxib", "type": "ChemicalEntity" }
{ "name": "rheumatoid arthritis", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Negative_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical valdecoxib and a disease osteoarthritis in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[valdecoxib,ChemicalEntity]' and '[osteoarthritis,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Effects of the cyclooxygenase-2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis. - Abstract of the Paper: [There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase (COX)-2-specific inhibitors than nonselective nonsteroidal antiinflammatory drugs (NSAIDs). We evaluated cardiovascular event data for valdecoxib, a new COX-2-specific inhibitor in approximately 8000 patients with osteoarthritis and rheumatoid arthritis treated with this agent in randomized clinical trials. The incidence of cardiovascular thrombotic events (cardiac, cerebrovascular and peripheral vascular, or arterial thrombotic) was determined by analyzing pooled valdecoxib (10-80 mg daily), nonselective NSAID (diclofenac 75 mg bid, ibuprofen 800 mg tid, or naproxen 500 mg bid) and placebo data from 10 randomized osteoarthritis and rheumatoid arthritis trials that were 6-52 weeks in duration. The incidence rates of events were determined in all patients (n = 7934) and in users of low-dose (< or =325 mg daily) aspirin (n = 1051) and nonusers of aspirin (n = 6883). Crude and exposure-adjusted incidences of thrombotic events were similar for valdecoxib, NSAIDs, and placebo. The risk of serious thrombotic events was also similar for each valdecoxib dose. Thrombotic risk was consistently higher for users of aspirin users than nonusers of aspirin (placebo, 1.4% vs. 0%; valdecoxib, 1.7% vs. 0.2%; NSAIDs, 1.9% vs. 0.5%). The rates of events in users of aspirin were similar for all 3 treatment groups and across valdecoxib doses. Short- and intermediate-term treatment with therapeutic (10 or 20 mg daily) and supratherapeutic (40 or 80 mg daily) valdecoxib doses was not associated with an increased incidence of thrombotic events relative to nonselective NSAIDs or placebo in osteoarthritis and rheumatoid arthritis patients in controlled clinical trials.] Identify how '[valdecoxib,ChemicalEntity]' and '[osteoarthritis,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Negative_Correlation</s>
Effects of the cyclooxygenase-2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis.
There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase (COX)-2-specific inhibitors than nonselective nonsteroidal antiinflammatory drugs (NSAIDs). We evaluated cardiovascular event data for valdecoxib, a new COX-2-specific inhibitor in approximately 8000 patients with osteoarthritis and rheumatoid arthritis treated with this agent in randomized clinical trials. The incidence of cardiovascular thrombotic events (cardiac, cerebrovascular and peripheral vascular, or arterial thrombotic) was determined by analyzing pooled valdecoxib (10-80 mg daily), nonselective NSAID (diclofenac 75 mg bid, ibuprofen 800 mg tid, or naproxen 500 mg bid) and placebo data from 10 randomized osteoarthritis and rheumatoid arthritis trials that were 6-52 weeks in duration. The incidence rates of events were determined in all patients (n = 7934) and in users of low-dose (< or =325 mg daily) aspirin (n = 1051) and nonusers of aspirin (n = 6883). Crude and exposure-adjusted incidences of thrombotic events were similar for valdecoxib, NSAIDs, and placebo. The risk of serious thrombotic events was also similar for each valdecoxib dose. Thrombotic risk was consistently higher for users of aspirin users than nonusers of aspirin (placebo, 1.4% vs. 0%; valdecoxib, 1.7% vs. 0.2%; NSAIDs, 1.9% vs. 0.5%). The rates of events in users of aspirin were similar for all 3 treatment groups and across valdecoxib doses. Short- and intermediate-term treatment with therapeutic (10 or 20 mg daily) and supratherapeutic (40 or 80 mg daily) valdecoxib doses was not associated with an increased incidence of thrombotic events relative to nonselective NSAIDs or placebo in osteoarthritis and rheumatoid arthritis patients in controlled clinical trials.
{ "name": "valdecoxib", "type": "ChemicalEntity" }
{ "name": "osteoarthritis", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Negative_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical valdecoxib and a chemical nonsteroidal antiinflammatory agents in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' indicates that Chemical A increases the effectiveness of Chemical B. This includes making Chemical B more sensitive, enhancing its ability to treat or induce a disease, or boosting its role in gene activation. 'Negative_Correlation' means that Chemical A reduces the effectiveness and impact of Chemical B. This includes decreasing Chemical B's sensitivity, reducing its ability to treat or induce a disease, diminishing its side effects, and lowering the gene activation it causes. 'Drug_Interaction' is when two different drugs or chemicals affect each other's action in the body, happening when they are used at the same time. 'Cotreatment' means that two different drugs or chemicals are used in combination therapy. 'Conversion' means that one chemical changes into another chemical. 'Comparison' means that two different drugs or chemicals have some differences and similarities in their effects. 'Association' refers to the relation between two chemicals that do not fit into any specific, predefined categories of relations. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[valdecoxib,ChemicalEntity]' and '[nonsteroidal antiinflammatory agents,ChemicalEntity]'. - Title of the Paper: Effects of the cyclooxygenase-2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis. - Abstract of the Paper: [There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase (COX)-2-specific inhibitors than nonselective nonsteroidal antiinflammatory drugs (NSAIDs). We evaluated cardiovascular event data for valdecoxib, a new COX-2-specific inhibitor in approximately 8000 patients with osteoarthritis and rheumatoid arthritis treated with this agent in randomized clinical trials. The incidence of cardiovascular thrombotic events (cardiac, cerebrovascular and peripheral vascular, or arterial thrombotic) was determined by analyzing pooled valdecoxib (10-80 mg daily), nonselective NSAID (diclofenac 75 mg bid, ibuprofen 800 mg tid, or naproxen 500 mg bid) and placebo data from 10 randomized osteoarthritis and rheumatoid arthritis trials that were 6-52 weeks in duration. The incidence rates of events were determined in all patients (n = 7934) and in users of low-dose (< or =325 mg daily) aspirin (n = 1051) and nonusers of aspirin (n = 6883). Crude and exposure-adjusted incidences of thrombotic events were similar for valdecoxib, NSAIDs, and placebo. The risk of serious thrombotic events was also similar for each valdecoxib dose. Thrombotic risk was consistently higher for users of aspirin users than nonusers of aspirin (placebo, 1.4% vs. 0%; valdecoxib, 1.7% vs. 0.2%; NSAIDs, 1.9% vs. 0.5%). The rates of events in users of aspirin were similar for all 3 treatment groups and across valdecoxib doses. Short- and intermediate-term treatment with therapeutic (10 or 20 mg daily) and supratherapeutic (40 or 80 mg daily) valdecoxib doses was not associated with an increased incidence of thrombotic events relative to nonselective NSAIDs or placebo in osteoarthritis and rheumatoid arthritis patients in controlled clinical trials.] Identify how '[valdecoxib,ChemicalEntity]' and '[nonsteroidal antiinflammatory agents,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association']. [/INST]Comparison</s>
Effects of the cyclooxygenase-2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis.
There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase (COX)-2-specific inhibitors than nonselective nonsteroidal antiinflammatory drugs (NSAIDs). We evaluated cardiovascular event data for valdecoxib, a new COX-2-specific inhibitor in approximately 8000 patients with osteoarthritis and rheumatoid arthritis treated with this agent in randomized clinical trials. The incidence of cardiovascular thrombotic events (cardiac, cerebrovascular and peripheral vascular, or arterial thrombotic) was determined by analyzing pooled valdecoxib (10-80 mg daily), nonselective NSAID (diclofenac 75 mg bid, ibuprofen 800 mg tid, or naproxen 500 mg bid) and placebo data from 10 randomized osteoarthritis and rheumatoid arthritis trials that were 6-52 weeks in duration. The incidence rates of events were determined in all patients (n = 7934) and in users of low-dose (< or =325 mg daily) aspirin (n = 1051) and nonusers of aspirin (n = 6883). Crude and exposure-adjusted incidences of thrombotic events were similar for valdecoxib, NSAIDs, and placebo. The risk of serious thrombotic events was also similar for each valdecoxib dose. Thrombotic risk was consistently higher for users of aspirin users than nonusers of aspirin (placebo, 1.4% vs. 0%; valdecoxib, 1.7% vs. 0.2%; NSAIDs, 1.9% vs. 0.5%). The rates of events in users of aspirin were similar for all 3 treatment groups and across valdecoxib doses. Short- and intermediate-term treatment with therapeutic (10 or 20 mg daily) and supratherapeutic (40 or 80 mg daily) valdecoxib doses was not associated with an increased incidence of thrombotic events relative to nonselective NSAIDs or placebo in osteoarthritis and rheumatoid arthritis patients in controlled clinical trials.
{ "name": "valdecoxib", "type": "ChemicalEntity" }
{ "name": "nonsteroidal antiinflammatory agents", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Drug_Interaction", "Cotreatment", "Conversion", "Comparison", "Association" ]
Comparison
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical valdecoxib and a disease arthritis in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[valdecoxib,ChemicalEntity]' and '[arthritis,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Effects of the cyclooxygenase-2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis. - Abstract of the Paper: [There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase (COX)-2-specific inhibitors than nonselective nonsteroidal antiinflammatory drugs (NSAIDs). We evaluated cardiovascular event data for valdecoxib, a new COX-2-specific inhibitor in approximately 8000 patients with osteoarthritis and rheumatoid arthritis treated with this agent in randomized clinical trials. The incidence of cardiovascular thrombotic events (cardiac, cerebrovascular and peripheral vascular, or arterial thrombotic) was determined by analyzing pooled valdecoxib (10-80 mg daily), nonselective NSAID (diclofenac 75 mg bid, ibuprofen 800 mg tid, or naproxen 500 mg bid) and placebo data from 10 randomized osteoarthritis and rheumatoid arthritis trials that were 6-52 weeks in duration. The incidence rates of events were determined in all patients (n = 7934) and in users of low-dose (< or =325 mg daily) aspirin (n = 1051) and nonusers of aspirin (n = 6883). Crude and exposure-adjusted incidences of thrombotic events were similar for valdecoxib, NSAIDs, and placebo. The risk of serious thrombotic events was also similar for each valdecoxib dose. Thrombotic risk was consistently higher for users of aspirin users than nonusers of aspirin (placebo, 1.4% vs. 0%; valdecoxib, 1.7% vs. 0.2%; NSAIDs, 1.9% vs. 0.5%). The rates of events in users of aspirin were similar for all 3 treatment groups and across valdecoxib doses. Short- and intermediate-term treatment with therapeutic (10 or 20 mg daily) and supratherapeutic (40 or 80 mg daily) valdecoxib doses was not associated with an increased incidence of thrombotic events relative to nonselective NSAIDs or placebo in osteoarthritis and rheumatoid arthritis patients in controlled clinical trials.] Identify how '[valdecoxib,ChemicalEntity]' and '[arthritis,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Negative_Correlation</s>
Effects of the cyclooxygenase-2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis.
There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase (COX)-2-specific inhibitors than nonselective nonsteroidal antiinflammatory drugs (NSAIDs). We evaluated cardiovascular event data for valdecoxib, a new COX-2-specific inhibitor in approximately 8000 patients with osteoarthritis and rheumatoid arthritis treated with this agent in randomized clinical trials. The incidence of cardiovascular thrombotic events (cardiac, cerebrovascular and peripheral vascular, or arterial thrombotic) was determined by analyzing pooled valdecoxib (10-80 mg daily), nonselective NSAID (diclofenac 75 mg bid, ibuprofen 800 mg tid, or naproxen 500 mg bid) and placebo data from 10 randomized osteoarthritis and rheumatoid arthritis trials that were 6-52 weeks in duration. The incidence rates of events were determined in all patients (n = 7934) and in users of low-dose (< or =325 mg daily) aspirin (n = 1051) and nonusers of aspirin (n = 6883). Crude and exposure-adjusted incidences of thrombotic events were similar for valdecoxib, NSAIDs, and placebo. The risk of serious thrombotic events was also similar for each valdecoxib dose. Thrombotic risk was consistently higher for users of aspirin users than nonusers of aspirin (placebo, 1.4% vs. 0%; valdecoxib, 1.7% vs. 0.2%; NSAIDs, 1.9% vs. 0.5%). The rates of events in users of aspirin were similar for all 3 treatment groups and across valdecoxib doses. Short- and intermediate-term treatment with therapeutic (10 or 20 mg daily) and supratherapeutic (40 or 80 mg daily) valdecoxib doses was not associated with an increased incidence of thrombotic events relative to nonselective NSAIDs or placebo in osteoarthritis and rheumatoid arthritis patients in controlled clinical trials.
{ "name": "valdecoxib", "type": "ChemicalEntity" }
{ "name": "arthritis", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Negative_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein cyclooxygenase-2 and a chemical valdecoxib in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a chemical leads to higher gene expression, or higher gene expression increases sensitivity to the chemical, or a gene variant exacerbates the chemical's side effects, or a gene causes an over-response to the chemical, or there is a positive interaction between two genes in any manner. 'Negative_Correlation' indicates that a chemical leads to reduced gene expression, or higher gene expression results in decreased sensitivity or resistance to the chemical, or a gene variant offers protection against the chemical's adverse effects, or a gene contributes to resistance against the chemical, or there exists a negative interaction between two genes in any form. 'Bind' means that a chemical either connects to a gene's promoter region or a protein acts as a receptor for that chemical. 'Association' is used to describe relation that don't clearly fall under categories like positive correlation, negative correlation and bind , or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[cyclooxygenase-2,GeneOrGeneProduct]' and '[valdecoxib,ChemicalEntity]'. - Title of the Paper: Effects of the cyclooxygenase-2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis. - Abstract of the Paper: [There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase (COX)-2-specific inhibitors than nonselective nonsteroidal antiinflammatory drugs (NSAIDs). We evaluated cardiovascular event data for valdecoxib, a new COX-2-specific inhibitor in approximately 8000 patients with osteoarthritis and rheumatoid arthritis treated with this agent in randomized clinical trials. The incidence of cardiovascular thrombotic events (cardiac, cerebrovascular and peripheral vascular, or arterial thrombotic) was determined by analyzing pooled valdecoxib (10-80 mg daily), nonselective NSAID (diclofenac 75 mg bid, ibuprofen 800 mg tid, or naproxen 500 mg bid) and placebo data from 10 randomized osteoarthritis and rheumatoid arthritis trials that were 6-52 weeks in duration. The incidence rates of events were determined in all patients (n = 7934) and in users of low-dose (< or =325 mg daily) aspirin (n = 1051) and nonusers of aspirin (n = 6883). Crude and exposure-adjusted incidences of thrombotic events were similar for valdecoxib, NSAIDs, and placebo. The risk of serious thrombotic events was also similar for each valdecoxib dose. Thrombotic risk was consistently higher for users of aspirin users than nonusers of aspirin (placebo, 1.4% vs. 0%; valdecoxib, 1.7% vs. 0.2%; NSAIDs, 1.9% vs. 0.5%). The rates of events in users of aspirin were similar for all 3 treatment groups and across valdecoxib doses. Short- and intermediate-term treatment with therapeutic (10 or 20 mg daily) and supratherapeutic (40 or 80 mg daily) valdecoxib doses was not associated with an increased incidence of thrombotic events relative to nonselective NSAIDs or placebo in osteoarthritis and rheumatoid arthritis patients in controlled clinical trials.] Identify how '[cyclooxygenase-2,GeneOrGeneProduct]' and '[valdecoxib,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. [/INST]Negative_Correlation</s>
Effects of the cyclooxygenase-2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis.
There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase (COX)-2-specific inhibitors than nonselective nonsteroidal antiinflammatory drugs (NSAIDs). We evaluated cardiovascular event data for valdecoxib, a new COX-2-specific inhibitor in approximately 8000 patients with osteoarthritis and rheumatoid arthritis treated with this agent in randomized clinical trials. The incidence of cardiovascular thrombotic events (cardiac, cerebrovascular and peripheral vascular, or arterial thrombotic) was determined by analyzing pooled valdecoxib (10-80 mg daily), nonselective NSAID (diclofenac 75 mg bid, ibuprofen 800 mg tid, or naproxen 500 mg bid) and placebo data from 10 randomized osteoarthritis and rheumatoid arthritis trials that were 6-52 weeks in duration. The incidence rates of events were determined in all patients (n = 7934) and in users of low-dose (< or =325 mg daily) aspirin (n = 1051) and nonusers of aspirin (n = 6883). Crude and exposure-adjusted incidences of thrombotic events were similar for valdecoxib, NSAIDs, and placebo. The risk of serious thrombotic events was also similar for each valdecoxib dose. Thrombotic risk was consistently higher for users of aspirin users than nonusers of aspirin (placebo, 1.4% vs. 0%; valdecoxib, 1.7% vs. 0.2%; NSAIDs, 1.9% vs. 0.5%). The rates of events in users of aspirin were similar for all 3 treatment groups and across valdecoxib doses. Short- and intermediate-term treatment with therapeutic (10 or 20 mg daily) and supratherapeutic (40 or 80 mg daily) valdecoxib doses was not associated with an increased incidence of thrombotic events relative to nonselective NSAIDs or placebo in osteoarthritis and rheumatoid arthritis patients in controlled clinical trials.
{ "name": "cyclooxygenase-2", "type": "GeneOrGeneProduct" }
{ "name": "valdecoxib", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Bind", "Association" ]
Negative_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a variant nine nucleotide insertion and a disease WFS in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[nine nucleotide insertion,SequenceVariant]' and '[WFS,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. - Abstract of the Paper: [Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. Affected individuals may also have renal tract abnormalities as well as neurogical and psychiatric syndromes. WFS1 encoding a transmembrane protein was identified as the gene responsible for WFS. We report herein a Japanese family, of which two members had this syndrome. In the WFS1 gene of these patients, we identified a novel mutation, a nine nucleotide insertion (AFF344-345ins). In addition, one of these patients had preclinical hypopituitarism, which is an unusual feature of WFS. As only the two family members homozygous for the mutation showed WFS, these data support the notion that this mutation is the cause of WFS.] Identify how '[nine nucleotide insertion,SequenceVariant]' and '[WFS,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome.
Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. Affected individuals may also have renal tract abnormalities as well as neurogical and psychiatric syndromes. WFS1 encoding a transmembrane protein was identified as the gene responsible for WFS. We report herein a Japanese family, of which two members had this syndrome. In the WFS1 gene of these patients, we identified a novel mutation, a nine nucleotide insertion (AFF344-345ins). In addition, one of these patients had preclinical hypopituitarism, which is an unusual feature of WFS. As only the two family members homozygous for the mutation showed WFS, these data support the notion that this mutation is the cause of WFS.
{ "name": "nine nucleotide insertion", "type": "SequenceVariant" }
{ "name": "WFS", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein WFS1 and a disease WFS in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[WFS1,GeneOrGeneProduct]' and '[WFS,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. - Abstract of the Paper: [Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. Affected individuals may also have renal tract abnormalities as well as neurogical and psychiatric syndromes. WFS1 encoding a transmembrane protein was identified as the gene responsible for WFS. We report herein a Japanese family, of which two members had this syndrome. In the WFS1 gene of these patients, we identified a novel mutation, a nine nucleotide insertion (AFF344-345ins). In addition, one of these patients had preclinical hypopituitarism, which is an unusual feature of WFS. As only the two family members homozygous for the mutation showed WFS, these data support the notion that this mutation is the cause of WFS.] Identify how '[WFS1,GeneOrGeneProduct]' and '[WFS,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome.
Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. Affected individuals may also have renal tract abnormalities as well as neurogical and psychiatric syndromes. WFS1 encoding a transmembrane protein was identified as the gene responsible for WFS. We report herein a Japanese family, of which two members had this syndrome. In the WFS1 gene of these patients, we identified a novel mutation, a nine nucleotide insertion (AFF344-345ins). In addition, one of these patients had preclinical hypopituitarism, which is an unusual feature of WFS. As only the two family members homozygous for the mutation showed WFS, these data support the notion that this mutation is the cause of WFS.
{ "name": "WFS1", "type": "GeneOrGeneProduct" }
{ "name": "WFS", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a variant AFF344-345ins and a disease Wolfram syndrome in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[AFF344-345ins,SequenceVariant]' and '[Wolfram syndrome,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. - Abstract of the Paper: [Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. Affected individuals may also have renal tract abnormalities as well as neurogical and psychiatric syndromes. WFS1 encoding a transmembrane protein was identified as the gene responsible for WFS. We report herein a Japanese family, of which two members had this syndrome. In the WFS1 gene of these patients, we identified a novel mutation, a nine nucleotide insertion (AFF344-345ins). In addition, one of these patients had preclinical hypopituitarism, which is an unusual feature of WFS. As only the two family members homozygous for the mutation showed WFS, these data support the notion that this mutation is the cause of WFS.] Identify how '[AFF344-345ins,SequenceVariant]' and '[Wolfram syndrome,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome.
Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. Affected individuals may also have renal tract abnormalities as well as neurogical and psychiatric syndromes. WFS1 encoding a transmembrane protein was identified as the gene responsible for WFS. We report herein a Japanese family, of which two members had this syndrome. In the WFS1 gene of these patients, we identified a novel mutation, a nine nucleotide insertion (AFF344-345ins). In addition, one of these patients had preclinical hypopituitarism, which is an unusual feature of WFS. As only the two family members homozygous for the mutation showed WFS, these data support the notion that this mutation is the cause of WFS.
{ "name": "AFF344-345ins", "type": "SequenceVariant" }
{ "name": "Wolfram syndrome", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical serotonin and a disease migraine in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[serotonin,ChemicalEntity]' and '[migraine,DiseaseOrPhenotypicFeature]'. - Title of the Paper: A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach. - Abstract of the Paper: [Migraine is a common debilitating primary headache disorder with significant mental, physical and social health implications. The brain neurotransmitter 5-hydroxytryptamine (5-HT; serotonin) is involved in nociceptive pathways and has been implicated in the pathophysiology of migraine. With few genetic studies investigating biosynthetic and metabolic enzymes governing the rate of 5-HT activity and their relationship to migraine, it was the objective of this study to assess genetic variants within the human tryptophan hydroxylase (TPH), amino acid decarboxylase (AADC) and monoamine oxidase A (MAOA) genes in migraine susceptibility. This objective was undertaken using a high-throughput DNA pooling experimental design, which proved to be a very accurate, sensitive and specific method of estimating allele frequencies for single nucleotide polymorphism, insertion deletion and variable number tandem repeat loci. Application of DNA pooling to a wide array of genetic loci provides greater scope in the assessment of population-based genetic association study designs. Despite the application of this high-throughput genotyping method, negative results from the two-stage DNA pooling design used to screen loci within the TPH, AADC and MAOA genes did not support their role in migraine susceptibility.] Identify how '[serotonin,ChemicalEntity]' and '[migraine,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach.
Migraine is a common debilitating primary headache disorder with significant mental, physical and social health implications. The brain neurotransmitter 5-hydroxytryptamine (5-HT; serotonin) is involved in nociceptive pathways and has been implicated in the pathophysiology of migraine. With few genetic studies investigating biosynthetic and metabolic enzymes governing the rate of 5-HT activity and their relationship to migraine, it was the objective of this study to assess genetic variants within the human tryptophan hydroxylase (TPH), amino acid decarboxylase (AADC) and monoamine oxidase A (MAOA) genes in migraine susceptibility. This objective was undertaken using a high-throughput DNA pooling experimental design, which proved to be a very accurate, sensitive and specific method of estimating allele frequencies for single nucleotide polymorphism, insertion deletion and variable number tandem repeat loci. Application of DNA pooling to a wide array of genetic loci provides greater scope in the assessment of population-based genetic association study designs. Despite the application of this high-throughput genotyping method, negative results from the two-stage DNA pooling design used to screen loci within the TPH, AADC and MAOA genes did not support their role in migraine susceptibility.
{ "name": "serotonin", "type": "ChemicalEntity" }
{ "name": "migraine", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical S-1 and a chemical 5-FU in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' indicates that Chemical A increases the effectiveness of Chemical B. This includes making Chemical B more sensitive, enhancing its ability to treat or induce a disease, or boosting its role in gene activation. 'Negative_Correlation' means that Chemical A reduces the effectiveness and impact of Chemical B. This includes decreasing Chemical B's sensitivity, reducing its ability to treat or induce a disease, diminishing its side effects, and lowering the gene activation it causes. 'Drug_Interaction' is when two different drugs or chemicals affect each other's action in the body, happening when they are used at the same time. 'Cotreatment' means that two different drugs or chemicals are used in combination therapy. 'Conversion' means that one chemical changes into another chemical. 'Comparison' means that two different drugs or chemicals have some differences and similarities in their effects. 'Association' refers to the relation between two chemicals that do not fit into any specific, predefined categories of relations. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[S-1,ChemicalEntity]' and '[5-FU,ChemicalEntity]'. - Title of the Paper: 5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine. - Abstract of the Paper: [Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.] Identify how '[S-1,ChemicalEntity]' and '[5-FU,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association']. [/INST]Comparison</s>
5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine.
Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.
{ "name": "S-1", "type": "ChemicalEntity" }
{ "name": "5-FU", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Drug_Interaction", "Cotreatment", "Conversion", "Comparison", "Association" ]
Comparison
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease cardiac symptoms and a chemical S-1 in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[cardiac symptoms,DiseaseOrPhenotypicFeature]' and '[S-1,ChemicalEntity]'. - Title of the Paper: 5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine. - Abstract of the Paper: [Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.] Identify how '[cardiac symptoms,DiseaseOrPhenotypicFeature]' and '[S-1,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Negative_Correlation</s>
5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine.
Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.
{ "name": "cardiac symptoms", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "S-1", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Negative_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease cardiotoxicity and a chemical S-1 in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[cardiotoxicity,DiseaseOrPhenotypicFeature]' and '[S-1,ChemicalEntity]'. - Title of the Paper: 5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine. - Abstract of the Paper: [Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.] Identify how '[cardiotoxicity,DiseaseOrPhenotypicFeature]' and '[S-1,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Negative_Correlation</s>
5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine.
Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.
{ "name": "cardiotoxicity", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "S-1", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Negative_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease cardiotoxicity and a chemical alpha-fluoro-beta-alanine in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[cardiotoxicity,DiseaseOrPhenotypicFeature]' and '[alpha-fluoro-beta-alanine,ChemicalEntity]'. - Title of the Paper: 5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine. - Abstract of the Paper: [Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.] Identify how '[cardiotoxicity,DiseaseOrPhenotypicFeature]' and '[alpha-fluoro-beta-alanine,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine.
Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.
{ "name": "cardiotoxicity", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "alpha-fluoro-beta-alanine", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease precordial pain and a chemical FBAL in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[precordial pain,DiseaseOrPhenotypicFeature]' and '[FBAL,ChemicalEntity]'. - Title of the Paper: 5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine. - Abstract of the Paper: [Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.] Identify how '[precordial pain,DiseaseOrPhenotypicFeature]' and '[FBAL,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine.
Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.
{ "name": "precordial pain", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "FBAL", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease precordial pain and a chemical 5-FU in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[precordial pain,DiseaseOrPhenotypicFeature]' and '[5-FU,ChemicalEntity]'. - Title of the Paper: 5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine. - Abstract of the Paper: [Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.] Identify how '[precordial pain,DiseaseOrPhenotypicFeature]' and '[5-FU,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine.
Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.
{ "name": "precordial pain", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "5-FU", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical FBAL and a chemical S-1 in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' indicates that Chemical A increases the effectiveness of Chemical B. This includes making Chemical B more sensitive, enhancing its ability to treat or induce a disease, or boosting its role in gene activation. 'Negative_Correlation' means that Chemical A reduces the effectiveness and impact of Chemical B. This includes decreasing Chemical B's sensitivity, reducing its ability to treat or induce a disease, diminishing its side effects, and lowering the gene activation it causes. 'Drug_Interaction' is when two different drugs or chemicals affect each other's action in the body, happening when they are used at the same time. 'Cotreatment' means that two different drugs or chemicals are used in combination therapy. 'Conversion' means that one chemical changes into another chemical. 'Comparison' means that two different drugs or chemicals have some differences and similarities in their effects. 'Association' refers to the relation between two chemicals that do not fit into any specific, predefined categories of relations. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[FBAL,ChemicalEntity]' and '[S-1,ChemicalEntity]'. - Title of the Paper: 5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine. - Abstract of the Paper: [Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.] Identify how '[FBAL,ChemicalEntity]' and '[S-1,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association']. [/INST]Negative_Correlation</s>
5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine.
Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.
{ "name": "FBAL", "type": "ChemicalEntity" }
{ "name": "S-1", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Drug_Interaction", "Cotreatment", "Conversion", "Comparison", "Association" ]
Negative_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease right bundle branch block and a chemical FBAL in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[right bundle branch block,DiseaseOrPhenotypicFeature]' and '[FBAL,ChemicalEntity]'. - Title of the Paper: 5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine. - Abstract of the Paper: [Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.] Identify how '[right bundle branch block,DiseaseOrPhenotypicFeature]' and '[FBAL,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine.
Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.
{ "name": "right bundle branch block", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "FBAL", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical 5-FU and a disease malignancies in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[5-FU,ChemicalEntity]' and '[malignancies,DiseaseOrPhenotypicFeature]'. - Title of the Paper: 5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine. - Abstract of the Paper: [Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.] Identify how '[5-FU,ChemicalEntity]' and '[malignancies,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Negative_Correlation</s>
5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine.
Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.
{ "name": "5-FU", "type": "ChemicalEntity" }
{ "name": "malignancies", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Negative_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical 5-Fluorouracil and a disease cardiotoxicity in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[5-Fluorouracil,ChemicalEntity]' and '[cardiotoxicity,DiseaseOrPhenotypicFeature]'. - Title of the Paper: 5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine. - Abstract of the Paper: [Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.] Identify how '[5-Fluorouracil,ChemicalEntity]' and '[cardiotoxicity,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine.
Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.
{ "name": "5-Fluorouracil", "type": "ChemicalEntity" }
{ "name": "cardiotoxicity", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical 5-FU and a chemical FBAL in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' indicates that Chemical A increases the effectiveness of Chemical B. This includes making Chemical B more sensitive, enhancing its ability to treat or induce a disease, or boosting its role in gene activation. 'Negative_Correlation' means that Chemical A reduces the effectiveness and impact of Chemical B. This includes decreasing Chemical B's sensitivity, reducing its ability to treat or induce a disease, diminishing its side effects, and lowering the gene activation it causes. 'Drug_Interaction' is when two different drugs or chemicals affect each other's action in the body, happening when they are used at the same time. 'Cotreatment' means that two different drugs or chemicals are used in combination therapy. 'Conversion' means that one chemical changes into another chemical. 'Comparison' means that two different drugs or chemicals have some differences and similarities in their effects. 'Association' refers to the relation between two chemicals that do not fit into any specific, predefined categories of relations. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[5-FU,ChemicalEntity]' and '[FBAL,ChemicalEntity]'. - Title of the Paper: 5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine. - Abstract of the Paper: [Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.] Identify how '[5-FU,ChemicalEntity]' and '[FBAL,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association']. [/INST]Positive_Correlation</s>
5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine.
Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.
{ "name": "5-FU", "type": "ChemicalEntity" }
{ "name": "FBAL", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Drug_Interaction", "Cotreatment", "Conversion", "Comparison", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical 5-FU and a disease right bundle branch block in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[5-FU,ChemicalEntity]' and '[right bundle branch block,DiseaseOrPhenotypicFeature]'. - Title of the Paper: 5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine. - Abstract of the Paper: [Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.] Identify how '[5-FU,ChemicalEntity]' and '[right bundle branch block,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine.
Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases to the liver and lung, was referred to us for chemotherapy from an affiliated hospital; he had no cardiac history. After admission, the patient received a continuous intravenous infusion of 5-FU (1000 mg/day), during which precordial pain with right bundle branch block occurred concomitantly with a high serum FBAL concentration of 1955 ng/ml. Both the precordial pain and the electrocardiographic changes disappeared spontaneously after the discontinuation of 5-FU. As the precordial pain in this patient was considered to have been due to 5-FU-induced cardiotoxicity, the administration of 5-FU was abandoned. Instead, oral administration of S-1 (a derivative of 5-FU), at 200 mg/day twice a week, was instituted, because S-1 has a strong inhibitory effect on dihydropyrimidine dehydrogenase, which catalyzes the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The experience of this case, together with a review of the literature, suggests that FBAL is related to 5-FU-induced cardiotoxicity. S-1 may be administered safely to patients with 5-FU-induced cardiotoxicity.
{ "name": "5-FU", "type": "ChemicalEntity" }
{ "name": "right bundle branch block", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical Pilocarpine and a disease status epilepticus in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[Pilocarpine,ChemicalEntity]' and '[status epilepticus,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Pilocarpine seizures cause age-dependent impairment in auditory location discrimination. - Abstract of the Paper: [Children who have status epilepticus have continuous or rapidly repeating seizures that may be life-threatening and may cause life-long changes in brain and behavior. The extent to which status epilepticus causes deficits in auditory discrimination is unknown. A naturalistic auditory location discrimination method was used to evaluate this question using an animal model of status epilepticus. Male Sprague-Dawley rats were injected with saline on postnatal day (P) 20, or a convulsant dose of pilocarpine on P20 or P45. Pilocarpine on either day induced status epilepticus; status epilepticus at P45 resulted in CA3 cell loss and spontaneous seizures, whereas P20 rats had no cell loss or spontaneous seizures. Mature rats were trained with sound-source location and sound-silence discriminations. Control (saline P20) rats acquired both discriminations immediately. In status epilepticus (P20) rats, acquisition of the sound-source location discrimination was moderately impaired. Status epilepticus (P45) rats failed to acquire either sound-source location or sound-silence discriminations. Status epilepticus in rat causes an age-dependent, long-term impairment in auditory discrimination. This impairment may explain one cause of impaired auditory location discrimination in humans.] Identify how '[Pilocarpine,ChemicalEntity]' and '[status epilepticus,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Pilocarpine seizures cause age-dependent impairment in auditory location discrimination.
Children who have status epilepticus have continuous or rapidly repeating seizures that may be life-threatening and may cause life-long changes in brain and behavior. The extent to which status epilepticus causes deficits in auditory discrimination is unknown. A naturalistic auditory location discrimination method was used to evaluate this question using an animal model of status epilepticus. Male Sprague-Dawley rats were injected with saline on postnatal day (P) 20, or a convulsant dose of pilocarpine on P20 or P45. Pilocarpine on either day induced status epilepticus; status epilepticus at P45 resulted in CA3 cell loss and spontaneous seizures, whereas P20 rats had no cell loss or spontaneous seizures. Mature rats were trained with sound-source location and sound-silence discriminations. Control (saline P20) rats acquired both discriminations immediately. In status epilepticus (P20) rats, acquisition of the sound-source location discrimination was moderately impaired. Status epilepticus (P45) rats failed to acquire either sound-source location or sound-silence discriminations. Status epilepticus in rat causes an age-dependent, long-term impairment in auditory discrimination. This impairment may explain one cause of impaired auditory location discrimination in humans.
{ "name": "Pilocarpine", "type": "ChemicalEntity" }
{ "name": "status epilepticus", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical Pilocarpine and a disease impairment in auditory location discrimination in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[Pilocarpine,ChemicalEntity]' and '[impairment in auditory location discrimination,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Pilocarpine seizures cause age-dependent impairment in auditory location discrimination. - Abstract of the Paper: [Children who have status epilepticus have continuous or rapidly repeating seizures that may be life-threatening and may cause life-long changes in brain and behavior. The extent to which status epilepticus causes deficits in auditory discrimination is unknown. A naturalistic auditory location discrimination method was used to evaluate this question using an animal model of status epilepticus. Male Sprague-Dawley rats were injected with saline on postnatal day (P) 20, or a convulsant dose of pilocarpine on P20 or P45. Pilocarpine on either day induced status epilepticus; status epilepticus at P45 resulted in CA3 cell loss and spontaneous seizures, whereas P20 rats had no cell loss or spontaneous seizures. Mature rats were trained with sound-source location and sound-silence discriminations. Control (saline P20) rats acquired both discriminations immediately. In status epilepticus (P20) rats, acquisition of the sound-source location discrimination was moderately impaired. Status epilepticus (P45) rats failed to acquire either sound-source location or sound-silence discriminations. Status epilepticus in rat causes an age-dependent, long-term impairment in auditory discrimination. This impairment may explain one cause of impaired auditory location discrimination in humans.] Identify how '[Pilocarpine,ChemicalEntity]' and '[impairment in auditory location discrimination,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Pilocarpine seizures cause age-dependent impairment in auditory location discrimination.
Children who have status epilepticus have continuous or rapidly repeating seizures that may be life-threatening and may cause life-long changes in brain and behavior. The extent to which status epilepticus causes deficits in auditory discrimination is unknown. A naturalistic auditory location discrimination method was used to evaluate this question using an animal model of status epilepticus. Male Sprague-Dawley rats were injected with saline on postnatal day (P) 20, or a convulsant dose of pilocarpine on P20 or P45. Pilocarpine on either day induced status epilepticus; status epilepticus at P45 resulted in CA3 cell loss and spontaneous seizures, whereas P20 rats had no cell loss or spontaneous seizures. Mature rats were trained with sound-source location and sound-silence discriminations. Control (saline P20) rats acquired both discriminations immediately. In status epilepticus (P20) rats, acquisition of the sound-source location discrimination was moderately impaired. Status epilepticus (P45) rats failed to acquire either sound-source location or sound-silence discriminations. Status epilepticus in rat causes an age-dependent, long-term impairment in auditory discrimination. This impairment may explain one cause of impaired auditory location discrimination in humans.
{ "name": "Pilocarpine", "type": "ChemicalEntity" }
{ "name": "impairment in auditory location discrimination", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical Pilocarpine and a disease seizures in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[Pilocarpine,ChemicalEntity]' and '[seizures,DiseaseOrPhenotypicFeature]'. - Title of the Paper: Pilocarpine seizures cause age-dependent impairment in auditory location discrimination. - Abstract of the Paper: [Children who have status epilepticus have continuous or rapidly repeating seizures that may be life-threatening and may cause life-long changes in brain and behavior. The extent to which status epilepticus causes deficits in auditory discrimination is unknown. A naturalistic auditory location discrimination method was used to evaluate this question using an animal model of status epilepticus. Male Sprague-Dawley rats were injected with saline on postnatal day (P) 20, or a convulsant dose of pilocarpine on P20 or P45. Pilocarpine on either day induced status epilepticus; status epilepticus at P45 resulted in CA3 cell loss and spontaneous seizures, whereas P20 rats had no cell loss or spontaneous seizures. Mature rats were trained with sound-source location and sound-silence discriminations. Control (saline P20) rats acquired both discriminations immediately. In status epilepticus (P20) rats, acquisition of the sound-source location discrimination was moderately impaired. Status epilepticus (P45) rats failed to acquire either sound-source location or sound-silence discriminations. Status epilepticus in rat causes an age-dependent, long-term impairment in auditory discrimination. This impairment may explain one cause of impaired auditory location discrimination in humans.] Identify how '[Pilocarpine,ChemicalEntity]' and '[seizures,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
Pilocarpine seizures cause age-dependent impairment in auditory location discrimination.
Children who have status epilepticus have continuous or rapidly repeating seizures that may be life-threatening and may cause life-long changes in brain and behavior. The extent to which status epilepticus causes deficits in auditory discrimination is unknown. A naturalistic auditory location discrimination method was used to evaluate this question using an animal model of status epilepticus. Male Sprague-Dawley rats were injected with saline on postnatal day (P) 20, or a convulsant dose of pilocarpine on P20 or P45. Pilocarpine on either day induced status epilepticus; status epilepticus at P45 resulted in CA3 cell loss and spontaneous seizures, whereas P20 rats had no cell loss or spontaneous seizures. Mature rats were trained with sound-source location and sound-silence discriminations. Control (saline P20) rats acquired both discriminations immediately. In status epilepticus (P20) rats, acquisition of the sound-source location discrimination was moderately impaired. Status epilepticus (P45) rats failed to acquire either sound-source location or sound-silence discriminations. Status epilepticus in rat causes an age-dependent, long-term impairment in auditory discrimination. This impairment may explain one cause of impaired auditory location discrimination in humans.
{ "name": "Pilocarpine", "type": "ChemicalEntity" }
{ "name": "seizures", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein PTPN22 and a disease autoimmune conditions in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[PTPN22,GeneOrGeneProduct]' and '[autoimmune conditions,DiseaseOrPhenotypicFeature]'. - Title of the Paper: No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations. - Abstract of the Paper: [INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). The minor (susceptibility) allele is absent in Asian populations, but a recent study suggested an independent involvement of another polymorphism located within the promoter -1123 nucleotides relative to the translational start site. AIMS: We aimed to analyse the association of three PTPN22 polymorphisms in two distinct Caucasian populations, the Czechs (with T1D and with JIA) and Azeri (with T1D). METHODS: The single nucleotide polymorphisms (SNP) at positions -1123 (rs2488457), +1858 (rs2476601, the R620W substitution), and +2740 (rs1217412) were genotyped using TaqMan assays in 372 subjects with childhood-onset T1D, 130 subjects with JIA, and 400 control subjects of Czech origin, and in 160 subjects with T1D and 271 healthy controls of Azeri origin. RESULTS: In the Czechs, all three SNPs were in a tight linkage disequlibrium, while in the Azeri, the linkage disequlibrium was limited to between the promoter and 3'-UTR polymorphism, D'(-1123, +2740)=0.99, r(2)=0.72. Haplotype reconstruction via the expectation-maximization algorithm showed in both populations that only the haplotype containing the minor (W) allele at codon 620 was associated with T1D (OR=2.26, 95% CI 1.68-3.02 in Czechs, OR=14.8, 95% CI 2.0-651 in Azeri) or JIA (OR=2.43, 95% CI 1.66-3.56 in Czechs). The haplotypes having the wild-type (R) allele at codon 620 and minor alleles at -1123 and/or +2740 were neutral as to the risk of autoimmune conditions in both populations. CONCLUSIONS: In two different Caucasian populations, the Czechs and the Azeri, no independent contribution can be detected either of the -1123 promoter SNP or the +2740 3'-UTR SNP, and only the minor allele at PTPN22 codon 620 contributes to the risk of autoimmunity.] Identify how '[PTPN22,GeneOrGeneProduct]' and '[autoimmune conditions,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations.
INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). The minor (susceptibility) allele is absent in Asian populations, but a recent study suggested an independent involvement of another polymorphism located within the promoter -1123 nucleotides relative to the translational start site. AIMS: We aimed to analyse the association of three PTPN22 polymorphisms in two distinct Caucasian populations, the Czechs (with T1D and with JIA) and Azeri (with T1D). METHODS: The single nucleotide polymorphisms (SNP) at positions -1123 (rs2488457), +1858 (rs2476601, the R620W substitution), and +2740 (rs1217412) were genotyped using TaqMan assays in 372 subjects with childhood-onset T1D, 130 subjects with JIA, and 400 control subjects of Czech origin, and in 160 subjects with T1D and 271 healthy controls of Azeri origin. RESULTS: In the Czechs, all three SNPs were in a tight linkage disequlibrium, while in the Azeri, the linkage disequlibrium was limited to between the promoter and 3'-UTR polymorphism, D'(-1123, +2740)=0.99, r(2)=0.72. Haplotype reconstruction via the expectation-maximization algorithm showed in both populations that only the haplotype containing the minor (W) allele at codon 620 was associated with T1D (OR=2.26, 95% CI 1.68-3.02 in Czechs, OR=14.8, 95% CI 2.0-651 in Azeri) or JIA (OR=2.43, 95% CI 1.66-3.56 in Czechs). The haplotypes having the wild-type (R) allele at codon 620 and minor alleles at -1123 and/or +2740 were neutral as to the risk of autoimmune conditions in both populations. CONCLUSIONS: In two different Caucasian populations, the Czechs and the Azeri, no independent contribution can be detected either of the -1123 promoter SNP or the +2740 3'-UTR SNP, and only the minor allele at PTPN22 codon 620 contributes to the risk of autoimmunity.
{ "name": "PTPN22", "type": "GeneOrGeneProduct" }
{ "name": "autoimmune conditions", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein PTPN22 and a disease type 1 diabetes in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[PTPN22,GeneOrGeneProduct]' and '[type 1 diabetes,DiseaseOrPhenotypicFeature]'. - Title of the Paper: No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations. - Abstract of the Paper: [INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). The minor (susceptibility) allele is absent in Asian populations, but a recent study suggested an independent involvement of another polymorphism located within the promoter -1123 nucleotides relative to the translational start site. AIMS: We aimed to analyse the association of three PTPN22 polymorphisms in two distinct Caucasian populations, the Czechs (with T1D and with JIA) and Azeri (with T1D). METHODS: The single nucleotide polymorphisms (SNP) at positions -1123 (rs2488457), +1858 (rs2476601, the R620W substitution), and +2740 (rs1217412) were genotyped using TaqMan assays in 372 subjects with childhood-onset T1D, 130 subjects with JIA, and 400 control subjects of Czech origin, and in 160 subjects with T1D and 271 healthy controls of Azeri origin. RESULTS: In the Czechs, all three SNPs were in a tight linkage disequlibrium, while in the Azeri, the linkage disequlibrium was limited to between the promoter and 3'-UTR polymorphism, D'(-1123, +2740)=0.99, r(2)=0.72. Haplotype reconstruction via the expectation-maximization algorithm showed in both populations that only the haplotype containing the minor (W) allele at codon 620 was associated with T1D (OR=2.26, 95% CI 1.68-3.02 in Czechs, OR=14.8, 95% CI 2.0-651 in Azeri) or JIA (OR=2.43, 95% CI 1.66-3.56 in Czechs). The haplotypes having the wild-type (R) allele at codon 620 and minor alleles at -1123 and/or +2740 were neutral as to the risk of autoimmune conditions in both populations. CONCLUSIONS: In two different Caucasian populations, the Czechs and the Azeri, no independent contribution can be detected either of the -1123 promoter SNP or the +2740 3'-UTR SNP, and only the minor allele at PTPN22 codon 620 contributes to the risk of autoimmunity.] Identify how '[PTPN22,GeneOrGeneProduct]' and '[type 1 diabetes,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations.
INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). The minor (susceptibility) allele is absent in Asian populations, but a recent study suggested an independent involvement of another polymorphism located within the promoter -1123 nucleotides relative to the translational start site. AIMS: We aimed to analyse the association of three PTPN22 polymorphisms in two distinct Caucasian populations, the Czechs (with T1D and with JIA) and Azeri (with T1D). METHODS: The single nucleotide polymorphisms (SNP) at positions -1123 (rs2488457), +1858 (rs2476601, the R620W substitution), and +2740 (rs1217412) were genotyped using TaqMan assays in 372 subjects with childhood-onset T1D, 130 subjects with JIA, and 400 control subjects of Czech origin, and in 160 subjects with T1D and 271 healthy controls of Azeri origin. RESULTS: In the Czechs, all three SNPs were in a tight linkage disequlibrium, while in the Azeri, the linkage disequlibrium was limited to between the promoter and 3'-UTR polymorphism, D'(-1123, +2740)=0.99, r(2)=0.72. Haplotype reconstruction via the expectation-maximization algorithm showed in both populations that only the haplotype containing the minor (W) allele at codon 620 was associated with T1D (OR=2.26, 95% CI 1.68-3.02 in Czechs, OR=14.8, 95% CI 2.0-651 in Azeri) or JIA (OR=2.43, 95% CI 1.66-3.56 in Czechs). The haplotypes having the wild-type (R) allele at codon 620 and minor alleles at -1123 and/or +2740 were neutral as to the risk of autoimmune conditions in both populations. CONCLUSIONS: In two different Caucasian populations, the Czechs and the Azeri, no independent contribution can be detected either of the -1123 promoter SNP or the +2740 3'-UTR SNP, and only the minor allele at PTPN22 codon 620 contributes to the risk of autoimmunity.
{ "name": "PTPN22", "type": "GeneOrGeneProduct" }
{ "name": "type 1 diabetes", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein PTPN22 and a disease juvenile idiopathic arthritis in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[PTPN22,GeneOrGeneProduct]' and '[juvenile idiopathic arthritis,DiseaseOrPhenotypicFeature]'. - Title of the Paper: No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations. - Abstract of the Paper: [INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). The minor (susceptibility) allele is absent in Asian populations, but a recent study suggested an independent involvement of another polymorphism located within the promoter -1123 nucleotides relative to the translational start site. AIMS: We aimed to analyse the association of three PTPN22 polymorphisms in two distinct Caucasian populations, the Czechs (with T1D and with JIA) and Azeri (with T1D). METHODS: The single nucleotide polymorphisms (SNP) at positions -1123 (rs2488457), +1858 (rs2476601, the R620W substitution), and +2740 (rs1217412) were genotyped using TaqMan assays in 372 subjects with childhood-onset T1D, 130 subjects with JIA, and 400 control subjects of Czech origin, and in 160 subjects with T1D and 271 healthy controls of Azeri origin. RESULTS: In the Czechs, all three SNPs were in a tight linkage disequlibrium, while in the Azeri, the linkage disequlibrium was limited to between the promoter and 3'-UTR polymorphism, D'(-1123, +2740)=0.99, r(2)=0.72. Haplotype reconstruction via the expectation-maximization algorithm showed in both populations that only the haplotype containing the minor (W) allele at codon 620 was associated with T1D (OR=2.26, 95% CI 1.68-3.02 in Czechs, OR=14.8, 95% CI 2.0-651 in Azeri) or JIA (OR=2.43, 95% CI 1.66-3.56 in Czechs). The haplotypes having the wild-type (R) allele at codon 620 and minor alleles at -1123 and/or +2740 were neutral as to the risk of autoimmune conditions in both populations. CONCLUSIONS: In two different Caucasian populations, the Czechs and the Azeri, no independent contribution can be detected either of the -1123 promoter SNP or the +2740 3'-UTR SNP, and only the minor allele at PTPN22 codon 620 contributes to the risk of autoimmunity.] Identify how '[PTPN22,GeneOrGeneProduct]' and '[juvenile idiopathic arthritis,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations.
INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). The minor (susceptibility) allele is absent in Asian populations, but a recent study suggested an independent involvement of another polymorphism located within the promoter -1123 nucleotides relative to the translational start site. AIMS: We aimed to analyse the association of three PTPN22 polymorphisms in two distinct Caucasian populations, the Czechs (with T1D and with JIA) and Azeri (with T1D). METHODS: The single nucleotide polymorphisms (SNP) at positions -1123 (rs2488457), +1858 (rs2476601, the R620W substitution), and +2740 (rs1217412) were genotyped using TaqMan assays in 372 subjects with childhood-onset T1D, 130 subjects with JIA, and 400 control subjects of Czech origin, and in 160 subjects with T1D and 271 healthy controls of Azeri origin. RESULTS: In the Czechs, all three SNPs were in a tight linkage disequlibrium, while in the Azeri, the linkage disequlibrium was limited to between the promoter and 3'-UTR polymorphism, D'(-1123, +2740)=0.99, r(2)=0.72. Haplotype reconstruction via the expectation-maximization algorithm showed in both populations that only the haplotype containing the minor (W) allele at codon 620 was associated with T1D (OR=2.26, 95% CI 1.68-3.02 in Czechs, OR=14.8, 95% CI 2.0-651 in Azeri) or JIA (OR=2.43, 95% CI 1.66-3.56 in Czechs). The haplotypes having the wild-type (R) allele at codon 620 and minor alleles at -1123 and/or +2740 were neutral as to the risk of autoimmune conditions in both populations. CONCLUSIONS: In two different Caucasian populations, the Czechs and the Azeri, no independent contribution can be detected either of the -1123 promoter SNP or the +2740 3'-UTR SNP, and only the minor allele at PTPN22 codon 620 contributes to the risk of autoimmunity.
{ "name": "PTPN22", "type": "GeneOrGeneProduct" }
{ "name": "juvenile idiopathic arthritis", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a variant R620W and a disease autoimmune diseases in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[R620W,SequenceVariant]' and '[autoimmune diseases,DiseaseOrPhenotypicFeature]'. - Title of the Paper: No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations. - Abstract of the Paper: [INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). The minor (susceptibility) allele is absent in Asian populations, but a recent study suggested an independent involvement of another polymorphism located within the promoter -1123 nucleotides relative to the translational start site. AIMS: We aimed to analyse the association of three PTPN22 polymorphisms in two distinct Caucasian populations, the Czechs (with T1D and with JIA) and Azeri (with T1D). METHODS: The single nucleotide polymorphisms (SNP) at positions -1123 (rs2488457), +1858 (rs2476601, the R620W substitution), and +2740 (rs1217412) were genotyped using TaqMan assays in 372 subjects with childhood-onset T1D, 130 subjects with JIA, and 400 control subjects of Czech origin, and in 160 subjects with T1D and 271 healthy controls of Azeri origin. RESULTS: In the Czechs, all three SNPs were in a tight linkage disequlibrium, while in the Azeri, the linkage disequlibrium was limited to between the promoter and 3'-UTR polymorphism, D'(-1123, +2740)=0.99, r(2)=0.72. Haplotype reconstruction via the expectation-maximization algorithm showed in both populations that only the haplotype containing the minor (W) allele at codon 620 was associated with T1D (OR=2.26, 95% CI 1.68-3.02 in Czechs, OR=14.8, 95% CI 2.0-651 in Azeri) or JIA (OR=2.43, 95% CI 1.66-3.56 in Czechs). The haplotypes having the wild-type (R) allele at codon 620 and minor alleles at -1123 and/or +2740 were neutral as to the risk of autoimmune conditions in both populations. CONCLUSIONS: In two different Caucasian populations, the Czechs and the Azeri, no independent contribution can be detected either of the -1123 promoter SNP or the +2740 3'-UTR SNP, and only the minor allele at PTPN22 codon 620 contributes to the risk of autoimmunity.] Identify how '[R620W,SequenceVariant]' and '[autoimmune diseases,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations.
INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). The minor (susceptibility) allele is absent in Asian populations, but a recent study suggested an independent involvement of another polymorphism located within the promoter -1123 nucleotides relative to the translational start site. AIMS: We aimed to analyse the association of three PTPN22 polymorphisms in two distinct Caucasian populations, the Czechs (with T1D and with JIA) and Azeri (with T1D). METHODS: The single nucleotide polymorphisms (SNP) at positions -1123 (rs2488457), +1858 (rs2476601, the R620W substitution), and +2740 (rs1217412) were genotyped using TaqMan assays in 372 subjects with childhood-onset T1D, 130 subjects with JIA, and 400 control subjects of Czech origin, and in 160 subjects with T1D and 271 healthy controls of Azeri origin. RESULTS: In the Czechs, all three SNPs were in a tight linkage disequlibrium, while in the Azeri, the linkage disequlibrium was limited to between the promoter and 3'-UTR polymorphism, D'(-1123, +2740)=0.99, r(2)=0.72. Haplotype reconstruction via the expectation-maximization algorithm showed in both populations that only the haplotype containing the minor (W) allele at codon 620 was associated with T1D (OR=2.26, 95% CI 1.68-3.02 in Czechs, OR=14.8, 95% CI 2.0-651 in Azeri) or JIA (OR=2.43, 95% CI 1.66-3.56 in Czechs). The haplotypes having the wild-type (R) allele at codon 620 and minor alleles at -1123 and/or +2740 were neutral as to the risk of autoimmune conditions in both populations. CONCLUSIONS: In two different Caucasian populations, the Czechs and the Azeri, no independent contribution can be detected either of the -1123 promoter SNP or the +2740 3'-UTR SNP, and only the minor allele at PTPN22 codon 620 contributes to the risk of autoimmunity.
{ "name": "R620W", "type": "SequenceVariant" }
{ "name": "autoimmune diseases", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a variant (W) allele at codon 620 and a disease T1D in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[(W) allele at codon 620,SequenceVariant]' and '[T1D,DiseaseOrPhenotypicFeature]'. - Title of the Paper: No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations. - Abstract of the Paper: [INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). The minor (susceptibility) allele is absent in Asian populations, but a recent study suggested an independent involvement of another polymorphism located within the promoter -1123 nucleotides relative to the translational start site. AIMS: We aimed to analyse the association of three PTPN22 polymorphisms in two distinct Caucasian populations, the Czechs (with T1D and with JIA) and Azeri (with T1D). METHODS: The single nucleotide polymorphisms (SNP) at positions -1123 (rs2488457), +1858 (rs2476601, the R620W substitution), and +2740 (rs1217412) were genotyped using TaqMan assays in 372 subjects with childhood-onset T1D, 130 subjects with JIA, and 400 control subjects of Czech origin, and in 160 subjects with T1D and 271 healthy controls of Azeri origin. RESULTS: In the Czechs, all three SNPs were in a tight linkage disequlibrium, while in the Azeri, the linkage disequlibrium was limited to between the promoter and 3'-UTR polymorphism, D'(-1123, +2740)=0.99, r(2)=0.72. Haplotype reconstruction via the expectation-maximization algorithm showed in both populations that only the haplotype containing the minor (W) allele at codon 620 was associated with T1D (OR=2.26, 95% CI 1.68-3.02 in Czechs, OR=14.8, 95% CI 2.0-651 in Azeri) or JIA (OR=2.43, 95% CI 1.66-3.56 in Czechs). The haplotypes having the wild-type (R) allele at codon 620 and minor alleles at -1123 and/or +2740 were neutral as to the risk of autoimmune conditions in both populations. CONCLUSIONS: In two different Caucasian populations, the Czechs and the Azeri, no independent contribution can be detected either of the -1123 promoter SNP or the +2740 3'-UTR SNP, and only the minor allele at PTPN22 codon 620 contributes to the risk of autoimmunity.] Identify how '[(W) allele at codon 620,SequenceVariant]' and '[T1D,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations.
INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). The minor (susceptibility) allele is absent in Asian populations, but a recent study suggested an independent involvement of another polymorphism located within the promoter -1123 nucleotides relative to the translational start site. AIMS: We aimed to analyse the association of three PTPN22 polymorphisms in two distinct Caucasian populations, the Czechs (with T1D and with JIA) and Azeri (with T1D). METHODS: The single nucleotide polymorphisms (SNP) at positions -1123 (rs2488457), +1858 (rs2476601, the R620W substitution), and +2740 (rs1217412) were genotyped using TaqMan assays in 372 subjects with childhood-onset T1D, 130 subjects with JIA, and 400 control subjects of Czech origin, and in 160 subjects with T1D and 271 healthy controls of Azeri origin. RESULTS: In the Czechs, all three SNPs were in a tight linkage disequlibrium, while in the Azeri, the linkage disequlibrium was limited to between the promoter and 3'-UTR polymorphism, D'(-1123, +2740)=0.99, r(2)=0.72. Haplotype reconstruction via the expectation-maximization algorithm showed in both populations that only the haplotype containing the minor (W) allele at codon 620 was associated with T1D (OR=2.26, 95% CI 1.68-3.02 in Czechs, OR=14.8, 95% CI 2.0-651 in Azeri) or JIA (OR=2.43, 95% CI 1.66-3.56 in Czechs). The haplotypes having the wild-type (R) allele at codon 620 and minor alleles at -1123 and/or +2740 were neutral as to the risk of autoimmune conditions in both populations. CONCLUSIONS: In two different Caucasian populations, the Czechs and the Azeri, no independent contribution can be detected either of the -1123 promoter SNP or the +2740 3'-UTR SNP, and only the minor allele at PTPN22 codon 620 contributes to the risk of autoimmunity.
{ "name": "(W) allele at codon 620", "type": "SequenceVariant" }
{ "name": "T1D", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a variant (R) allele at codon 620 and a disease JIA in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[(R) allele at codon 620,SequenceVariant]' and '[JIA,DiseaseOrPhenotypicFeature]'. - Title of the Paper: No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations. - Abstract of the Paper: [INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). The minor (susceptibility) allele is absent in Asian populations, but a recent study suggested an independent involvement of another polymorphism located within the promoter -1123 nucleotides relative to the translational start site. AIMS: We aimed to analyse the association of three PTPN22 polymorphisms in two distinct Caucasian populations, the Czechs (with T1D and with JIA) and Azeri (with T1D). METHODS: The single nucleotide polymorphisms (SNP) at positions -1123 (rs2488457), +1858 (rs2476601, the R620W substitution), and +2740 (rs1217412) were genotyped using TaqMan assays in 372 subjects with childhood-onset T1D, 130 subjects with JIA, and 400 control subjects of Czech origin, and in 160 subjects with T1D and 271 healthy controls of Azeri origin. RESULTS: In the Czechs, all three SNPs were in a tight linkage disequlibrium, while in the Azeri, the linkage disequlibrium was limited to between the promoter and 3'-UTR polymorphism, D'(-1123, +2740)=0.99, r(2)=0.72. Haplotype reconstruction via the expectation-maximization algorithm showed in both populations that only the haplotype containing the minor (W) allele at codon 620 was associated with T1D (OR=2.26, 95% CI 1.68-3.02 in Czechs, OR=14.8, 95% CI 2.0-651 in Azeri) or JIA (OR=2.43, 95% CI 1.66-3.56 in Czechs). The haplotypes having the wild-type (R) allele at codon 620 and minor alleles at -1123 and/or +2740 were neutral as to the risk of autoimmune conditions in both populations. CONCLUSIONS: In two different Caucasian populations, the Czechs and the Azeri, no independent contribution can be detected either of the -1123 promoter SNP or the +2740 3'-UTR SNP, and only the minor allele at PTPN22 codon 620 contributes to the risk of autoimmunity.] Identify how '[(R) allele at codon 620,SequenceVariant]' and '[JIA,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations.
INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). The minor (susceptibility) allele is absent in Asian populations, but a recent study suggested an independent involvement of another polymorphism located within the promoter -1123 nucleotides relative to the translational start site. AIMS: We aimed to analyse the association of three PTPN22 polymorphisms in two distinct Caucasian populations, the Czechs (with T1D and with JIA) and Azeri (with T1D). METHODS: The single nucleotide polymorphisms (SNP) at positions -1123 (rs2488457), +1858 (rs2476601, the R620W substitution), and +2740 (rs1217412) were genotyped using TaqMan assays in 372 subjects with childhood-onset T1D, 130 subjects with JIA, and 400 control subjects of Czech origin, and in 160 subjects with T1D and 271 healthy controls of Azeri origin. RESULTS: In the Czechs, all three SNPs were in a tight linkage disequlibrium, while in the Azeri, the linkage disequlibrium was limited to between the promoter and 3'-UTR polymorphism, D'(-1123, +2740)=0.99, r(2)=0.72. Haplotype reconstruction via the expectation-maximization algorithm showed in both populations that only the haplotype containing the minor (W) allele at codon 620 was associated with T1D (OR=2.26, 95% CI 1.68-3.02 in Czechs, OR=14.8, 95% CI 2.0-651 in Azeri) or JIA (OR=2.43, 95% CI 1.66-3.56 in Czechs). The haplotypes having the wild-type (R) allele at codon 620 and minor alleles at -1123 and/or +2740 were neutral as to the risk of autoimmune conditions in both populations. CONCLUSIONS: In two different Caucasian populations, the Czechs and the Azeri, no independent contribution can be detected either of the -1123 promoter SNP or the +2740 3'-UTR SNP, and only the minor allele at PTPN22 codon 620 contributes to the risk of autoimmunity.
{ "name": "(R) allele at codon 620", "type": "SequenceVariant" }
{ "name": "JIA", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a variant -1123 G>C and a variant +2740 A>G in a medical text. Choose the correct relation from ['Association', 'Positive_Correlation', 'Negative_Correlation'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[-1123 G>C,SequenceVariant]' and '[+2740 A>G,SequenceVariant]'. - Title of the Paper: No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations. - Abstract of the Paper: [INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). The minor (susceptibility) allele is absent in Asian populations, but a recent study suggested an independent involvement of another polymorphism located within the promoter -1123 nucleotides relative to the translational start site. AIMS: We aimed to analyse the association of three PTPN22 polymorphisms in two distinct Caucasian populations, the Czechs (with T1D and with JIA) and Azeri (with T1D). METHODS: The single nucleotide polymorphisms (SNP) at positions -1123 (rs2488457), +1858 (rs2476601, the R620W substitution), and +2740 (rs1217412) were genotyped using TaqMan assays in 372 subjects with childhood-onset T1D, 130 subjects with JIA, and 400 control subjects of Czech origin, and in 160 subjects with T1D and 271 healthy controls of Azeri origin. RESULTS: In the Czechs, all three SNPs were in a tight linkage disequlibrium, while in the Azeri, the linkage disequlibrium was limited to between the promoter and 3'-UTR polymorphism, D'(-1123, +2740)=0.99, r(2)=0.72. Haplotype reconstruction via the expectation-maximization algorithm showed in both populations that only the haplotype containing the minor (W) allele at codon 620 was associated with T1D (OR=2.26, 95% CI 1.68-3.02 in Czechs, OR=14.8, 95% CI 2.0-651 in Azeri) or JIA (OR=2.43, 95% CI 1.66-3.56 in Czechs). The haplotypes having the wild-type (R) allele at codon 620 and minor alleles at -1123 and/or +2740 were neutral as to the risk of autoimmune conditions in both populations. CONCLUSIONS: In two different Caucasian populations, the Czechs and the Azeri, no independent contribution can be detected either of the -1123 promoter SNP or the +2740 3'-UTR SNP, and only the minor allele at PTPN22 codon 620 contributes to the risk of autoimmunity.] Identify how '[-1123 G>C,SequenceVariant]' and '[+2740 A>G,SequenceVariant]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Association', 'Positive_Correlation', 'Negative_Correlation']. [/INST]Association</s>
No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations.
INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). The minor (susceptibility) allele is absent in Asian populations, but a recent study suggested an independent involvement of another polymorphism located within the promoter -1123 nucleotides relative to the translational start site. AIMS: We aimed to analyse the association of three PTPN22 polymorphisms in two distinct Caucasian populations, the Czechs (with T1D and with JIA) and Azeri (with T1D). METHODS: The single nucleotide polymorphisms (SNP) at positions -1123 (rs2488457), +1858 (rs2476601, the R620W substitution), and +2740 (rs1217412) were genotyped using TaqMan assays in 372 subjects with childhood-onset T1D, 130 subjects with JIA, and 400 control subjects of Czech origin, and in 160 subjects with T1D and 271 healthy controls of Azeri origin. RESULTS: In the Czechs, all three SNPs were in a tight linkage disequlibrium, while in the Azeri, the linkage disequlibrium was limited to between the promoter and 3'-UTR polymorphism, D'(-1123, +2740)=0.99, r(2)=0.72. Haplotype reconstruction via the expectation-maximization algorithm showed in both populations that only the haplotype containing the minor (W) allele at codon 620 was associated with T1D (OR=2.26, 95% CI 1.68-3.02 in Czechs, OR=14.8, 95% CI 2.0-651 in Azeri) or JIA (OR=2.43, 95% CI 1.66-3.56 in Czechs). The haplotypes having the wild-type (R) allele at codon 620 and minor alleles at -1123 and/or +2740 were neutral as to the risk of autoimmune conditions in both populations. CONCLUSIONS: In two different Caucasian populations, the Czechs and the Azeri, no independent contribution can be detected either of the -1123 promoter SNP or the +2740 3'-UTR SNP, and only the minor allele at PTPN22 codon 620 contributes to the risk of autoimmunity.
{ "name": "-1123 G>C", "type": "SequenceVariant" }
{ "name": "+2740 A>G", "type": "SequenceVariant" }
[ "Association", "Positive_Correlation", "Negative_Correlation" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a variant -511C/T and a variant -31T/C in a medical text. Choose the correct relation from ['Association', 'Positive_Correlation', 'Negative_Correlation'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means there's a direct link between a chemical and a disease. This includes cases where the chemical causes the disease, higher doses of the chemical increase disease risk, the disease raises the chemical's level in the body, there's a direct positive link between the chemical's level and disease risk, or exposure to the chemical during development affects disease susceptibility later on. 'Negative_Correlation' means there's an inverse relation between a chemical substance and a disease. This includes situations where the chemical or drug is used to treat the disease, the presence of the disease lowers the level of the chemical in the body, or the chemical or drug reduces the likelihood of the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[-511C/T,SequenceVariant]' and '[-31T/C,SequenceVariant]'. - Title of the Paper: A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population. - Abstract of the Paper: [Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to the possibility that they may alter the IL1B transcription. The signal transduction target upon interleukin 1 beta (IL1beta) stimulation, the nuclear factor of kappa B (NFkappaB) activation, supports cancer development, signal transduction in which is mediated by FS-7 cell-associated cell surface antigen (FAS) signaling. Based on recent papers describing the prognostic roles of the polymorphisms and the NFkappaB functions on cancer development, we sought to determine if Japanese gastric cancer patients were affected by the IL1B -31/-511 and FAS-670 polymorphisms. A case-control study was conducted on incident gastric adenocarcinoma patients (n=271) and age-gender frequency-matched control subjects (n=271). We observed strong linkage disequilibrium between the T allele at -511 and the C allele at -31 and between the C allele at -511 and the T allele at -31 in IL1B in both the cases and controls (R (2)=0.94). Neither IL1B-31, -511 nor FAS-670 polymorphisms showed significantly different risks of gastric adenocarcinoma. Though FAS-670 polymorphisms did not show any significant difference, the proportion of subjects with IL1B-31TT (or IL1B-511CC) increased according to stage (trend P=0.019). In particular, subjects with stage IV had a two times higher probability of having either IL1B-31TT (or IL1B-511CC) genotype compared with stage I subjects. These observations suggest that IL1B-31TT and IL1B-511CC are associated with disease progression.] Identify how '[-511C/T,SequenceVariant]' and '[-31T/C,SequenceVariant]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Association', 'Positive_Correlation', 'Negative_Correlation']. [/INST]Association</s>
A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population.
Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to the possibility that they may alter the IL1B transcription. The signal transduction target upon interleukin 1 beta (IL1beta) stimulation, the nuclear factor of kappa B (NFkappaB) activation, supports cancer development, signal transduction in which is mediated by FS-7 cell-associated cell surface antigen (FAS) signaling. Based on recent papers describing the prognostic roles of the polymorphisms and the NFkappaB functions on cancer development, we sought to determine if Japanese gastric cancer patients were affected by the IL1B -31/-511 and FAS-670 polymorphisms. A case-control study was conducted on incident gastric adenocarcinoma patients (n=271) and age-gender frequency-matched control subjects (n=271). We observed strong linkage disequilibrium between the T allele at -511 and the C allele at -31 and between the C allele at -511 and the T allele at -31 in IL1B in both the cases and controls (R (2)=0.94). Neither IL1B-31, -511 nor FAS-670 polymorphisms showed significantly different risks of gastric adenocarcinoma. Though FAS-670 polymorphisms did not show any significant difference, the proportion of subjects with IL1B-31TT (or IL1B-511CC) increased according to stage (trend P=0.019). In particular, subjects with stage IV had a two times higher probability of having either IL1B-31TT (or IL1B-511CC) genotype compared with stage I subjects. These observations suggest that IL1B-31TT and IL1B-511CC are associated with disease progression.
{ "name": "-511C/T", "type": "SequenceVariant" }
{ "name": "-31T/C", "type": "SequenceVariant" }
[ "Association", "Positive_Correlation", "Negative_Correlation" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein NFkappaB and a disease cancer in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[NFkappaB,GeneOrGeneProduct]' and '[cancer,DiseaseOrPhenotypicFeature]'. - Title of the Paper: A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population. - Abstract of the Paper: [Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to the possibility that they may alter the IL1B transcription. The signal transduction target upon interleukin 1 beta (IL1beta) stimulation, the nuclear factor of kappa B (NFkappaB) activation, supports cancer development, signal transduction in which is mediated by FS-7 cell-associated cell surface antigen (FAS) signaling. Based on recent papers describing the prognostic roles of the polymorphisms and the NFkappaB functions on cancer development, we sought to determine if Japanese gastric cancer patients were affected by the IL1B -31/-511 and FAS-670 polymorphisms. A case-control study was conducted on incident gastric adenocarcinoma patients (n=271) and age-gender frequency-matched control subjects (n=271). We observed strong linkage disequilibrium between the T allele at -511 and the C allele at -31 and between the C allele at -511 and the T allele at -31 in IL1B in both the cases and controls (R (2)=0.94). Neither IL1B-31, -511 nor FAS-670 polymorphisms showed significantly different risks of gastric adenocarcinoma. Though FAS-670 polymorphisms did not show any significant difference, the proportion of subjects with IL1B-31TT (or IL1B-511CC) increased according to stage (trend P=0.019). In particular, subjects with stage IV had a two times higher probability of having either IL1B-31TT (or IL1B-511CC) genotype compared with stage I subjects. These observations suggest that IL1B-31TT and IL1B-511CC are associated with disease progression.] Identify how '[NFkappaB,GeneOrGeneProduct]' and '[cancer,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population.
Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to the possibility that they may alter the IL1B transcription. The signal transduction target upon interleukin 1 beta (IL1beta) stimulation, the nuclear factor of kappa B (NFkappaB) activation, supports cancer development, signal transduction in which is mediated by FS-7 cell-associated cell surface antigen (FAS) signaling. Based on recent papers describing the prognostic roles of the polymorphisms and the NFkappaB functions on cancer development, we sought to determine if Japanese gastric cancer patients were affected by the IL1B -31/-511 and FAS-670 polymorphisms. A case-control study was conducted on incident gastric adenocarcinoma patients (n=271) and age-gender frequency-matched control subjects (n=271). We observed strong linkage disequilibrium between the T allele at -511 and the C allele at -31 and between the C allele at -511 and the T allele at -31 in IL1B in both the cases and controls (R (2)=0.94). Neither IL1B-31, -511 nor FAS-670 polymorphisms showed significantly different risks of gastric adenocarcinoma. Though FAS-670 polymorphisms did not show any significant difference, the proportion of subjects with IL1B-31TT (or IL1B-511CC) increased according to stage (trend P=0.019). In particular, subjects with stage IV had a two times higher probability of having either IL1B-31TT (or IL1B-511CC) genotype compared with stage I subjects. These observations suggest that IL1B-31TT and IL1B-511CC are associated with disease progression.
{ "name": "NFkappaB", "type": "GeneOrGeneProduct" }
{ "name": "cancer", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein IL1beta and a disease cancer in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[IL1beta,GeneOrGeneProduct]' and '[cancer,DiseaseOrPhenotypicFeature]'. - Title of the Paper: A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population. - Abstract of the Paper: [Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to the possibility that they may alter the IL1B transcription. The signal transduction target upon interleukin 1 beta (IL1beta) stimulation, the nuclear factor of kappa B (NFkappaB) activation, supports cancer development, signal transduction in which is mediated by FS-7 cell-associated cell surface antigen (FAS) signaling. Based on recent papers describing the prognostic roles of the polymorphisms and the NFkappaB functions on cancer development, we sought to determine if Japanese gastric cancer patients were affected by the IL1B -31/-511 and FAS-670 polymorphisms. A case-control study was conducted on incident gastric adenocarcinoma patients (n=271) and age-gender frequency-matched control subjects (n=271). We observed strong linkage disequilibrium between the T allele at -511 and the C allele at -31 and between the C allele at -511 and the T allele at -31 in IL1B in both the cases and controls (R (2)=0.94). Neither IL1B-31, -511 nor FAS-670 polymorphisms showed significantly different risks of gastric adenocarcinoma. Though FAS-670 polymorphisms did not show any significant difference, the proportion of subjects with IL1B-31TT (or IL1B-511CC) increased according to stage (trend P=0.019). In particular, subjects with stage IV had a two times higher probability of having either IL1B-31TT (or IL1B-511CC) genotype compared with stage I subjects. These observations suggest that IL1B-31TT and IL1B-511CC are associated with disease progression.] Identify how '[IL1beta,GeneOrGeneProduct]' and '[cancer,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population.
Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to the possibility that they may alter the IL1B transcription. The signal transduction target upon interleukin 1 beta (IL1beta) stimulation, the nuclear factor of kappa B (NFkappaB) activation, supports cancer development, signal transduction in which is mediated by FS-7 cell-associated cell surface antigen (FAS) signaling. Based on recent papers describing the prognostic roles of the polymorphisms and the NFkappaB functions on cancer development, we sought to determine if Japanese gastric cancer patients were affected by the IL1B -31/-511 and FAS-670 polymorphisms. A case-control study was conducted on incident gastric adenocarcinoma patients (n=271) and age-gender frequency-matched control subjects (n=271). We observed strong linkage disequilibrium between the T allele at -511 and the C allele at -31 and between the C allele at -511 and the T allele at -31 in IL1B in both the cases and controls (R (2)=0.94). Neither IL1B-31, -511 nor FAS-670 polymorphisms showed significantly different risks of gastric adenocarcinoma. Though FAS-670 polymorphisms did not show any significant difference, the proportion of subjects with IL1B-31TT (or IL1B-511CC) increased according to stage (trend P=0.019). In particular, subjects with stage IV had a two times higher probability of having either IL1B-31TT (or IL1B-511CC) genotype compared with stage I subjects. These observations suggest that IL1B-31TT and IL1B-511CC are associated with disease progression.
{ "name": "IL1beta", "type": "GeneOrGeneProduct" }
{ "name": "cancer", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein IL1beta and a gene or protein nuclear factor of kappa B in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' in genetics refers to a scenario where two genes influence each other in a way that enhances their activity or expression. This includes situations where Gene A is a transcription factor that upregulates Gene B, or any other instance where two genes demonstrate a positive correlation in their function or expression. 'Negative_Correlation' in genetics means that two genes affect each other in a way that reduces their activity or expression. This includes cases where Gene A is a transcription factor for Gene B and downregulates it, or any other situation where two genes show a negative correlation in their function or expression. 'Bind' refers to a physical interaction where two proteins connect with each other, or it can mean Protein A attaching itself to the promoter of Gene B. 'Association' refers to the relation between pairs that either cannot be categorized into any specific type of relation, or is relation that lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[IL1beta,GeneOrGeneProduct]' and '[nuclear factor of kappa B,GeneOrGeneProduct]'. - Title of the Paper: A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population. - Abstract of the Paper: [Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to the possibility that they may alter the IL1B transcription. The signal transduction target upon interleukin 1 beta (IL1beta) stimulation, the nuclear factor of kappa B (NFkappaB) activation, supports cancer development, signal transduction in which is mediated by FS-7 cell-associated cell surface antigen (FAS) signaling. Based on recent papers describing the prognostic roles of the polymorphisms and the NFkappaB functions on cancer development, we sought to determine if Japanese gastric cancer patients were affected by the IL1B -31/-511 and FAS-670 polymorphisms. A case-control study was conducted on incident gastric adenocarcinoma patients (n=271) and age-gender frequency-matched control subjects (n=271). We observed strong linkage disequilibrium between the T allele at -511 and the C allele at -31 and between the C allele at -511 and the T allele at -31 in IL1B in both the cases and controls (R (2)=0.94). Neither IL1B-31, -511 nor FAS-670 polymorphisms showed significantly different risks of gastric adenocarcinoma. Though FAS-670 polymorphisms did not show any significant difference, the proportion of subjects with IL1B-31TT (or IL1B-511CC) increased according to stage (trend P=0.019). In particular, subjects with stage IV had a two times higher probability of having either IL1B-31TT (or IL1B-511CC) genotype compared with stage I subjects. These observations suggest that IL1B-31TT and IL1B-511CC are associated with disease progression.] Identify how '[IL1beta,GeneOrGeneProduct]' and '[nuclear factor of kappa B,GeneOrGeneProduct]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. [/INST]Association</s>
A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population.
Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to the possibility that they may alter the IL1B transcription. The signal transduction target upon interleukin 1 beta (IL1beta) stimulation, the nuclear factor of kappa B (NFkappaB) activation, supports cancer development, signal transduction in which is mediated by FS-7 cell-associated cell surface antigen (FAS) signaling. Based on recent papers describing the prognostic roles of the polymorphisms and the NFkappaB functions on cancer development, we sought to determine if Japanese gastric cancer patients were affected by the IL1B -31/-511 and FAS-670 polymorphisms. A case-control study was conducted on incident gastric adenocarcinoma patients (n=271) and age-gender frequency-matched control subjects (n=271). We observed strong linkage disequilibrium between the T allele at -511 and the C allele at -31 and between the C allele at -511 and the T allele at -31 in IL1B in both the cases and controls (R (2)=0.94). Neither IL1B-31, -511 nor FAS-670 polymorphisms showed significantly different risks of gastric adenocarcinoma. Though FAS-670 polymorphisms did not show any significant difference, the proportion of subjects with IL1B-31TT (or IL1B-511CC) increased according to stage (trend P=0.019). In particular, subjects with stage IV had a two times higher probability of having either IL1B-31TT (or IL1B-511CC) genotype compared with stage I subjects. These observations suggest that IL1B-31TT and IL1B-511CC are associated with disease progression.
{ "name": "IL1beta", "type": "GeneOrGeneProduct" }
{ "name": "nuclear factor of kappa B", "type": "GeneOrGeneProduct" }
[ "Positive_Correlation", "Negative_Correlation", "Bind", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein IL1B and a disease gastric adenocarcinoma in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' here means that the relation between a gene and a disease is direct and increases the likelihood of the disease. This includes cases where too much protein causes the disease, removing the gene prevents the disease, or a side effect from the protein or drug results in the disease. 'Negative_Correlation' indicates that when a protein (or gene) is present, it helps to treat or prevent a disease. Conversely, the absence of this protein or the deactivation of its gene can lead to the disease. 'Association' is used to describe relation that don't clearly fall under categories like positive or negative correlation, or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[IL1B,GeneOrGeneProduct]' and '[gastric adenocarcinoma,DiseaseOrPhenotypicFeature]'. - Title of the Paper: A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population. - Abstract of the Paper: [Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to the possibility that they may alter the IL1B transcription. The signal transduction target upon interleukin 1 beta (IL1beta) stimulation, the nuclear factor of kappa B (NFkappaB) activation, supports cancer development, signal transduction in which is mediated by FS-7 cell-associated cell surface antigen (FAS) signaling. Based on recent papers describing the prognostic roles of the polymorphisms and the NFkappaB functions on cancer development, we sought to determine if Japanese gastric cancer patients were affected by the IL1B -31/-511 and FAS-670 polymorphisms. A case-control study was conducted on incident gastric adenocarcinoma patients (n=271) and age-gender frequency-matched control subjects (n=271). We observed strong linkage disequilibrium between the T allele at -511 and the C allele at -31 and between the C allele at -511 and the T allele at -31 in IL1B in both the cases and controls (R (2)=0.94). Neither IL1B-31, -511 nor FAS-670 polymorphisms showed significantly different risks of gastric adenocarcinoma. Though FAS-670 polymorphisms did not show any significant difference, the proportion of subjects with IL1B-31TT (or IL1B-511CC) increased according to stage (trend P=0.019). In particular, subjects with stage IV had a two times higher probability of having either IL1B-31TT (or IL1B-511CC) genotype compared with stage I subjects. These observations suggest that IL1B-31TT and IL1B-511CC are associated with disease progression.] Identify how '[IL1B,GeneOrGeneProduct]' and '[gastric adenocarcinoma,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Association</s>
A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population.
Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to the possibility that they may alter the IL1B transcription. The signal transduction target upon interleukin 1 beta (IL1beta) stimulation, the nuclear factor of kappa B (NFkappaB) activation, supports cancer development, signal transduction in which is mediated by FS-7 cell-associated cell surface antigen (FAS) signaling. Based on recent papers describing the prognostic roles of the polymorphisms and the NFkappaB functions on cancer development, we sought to determine if Japanese gastric cancer patients were affected by the IL1B -31/-511 and FAS-670 polymorphisms. A case-control study was conducted on incident gastric adenocarcinoma patients (n=271) and age-gender frequency-matched control subjects (n=271). We observed strong linkage disequilibrium between the T allele at -511 and the C allele at -31 and between the C allele at -511 and the T allele at -31 in IL1B in both the cases and controls (R (2)=0.94). Neither IL1B-31, -511 nor FAS-670 polymorphisms showed significantly different risks of gastric adenocarcinoma. Though FAS-670 polymorphisms did not show any significant difference, the proportion of subjects with IL1B-31TT (or IL1B-511CC) increased according to stage (trend P=0.019). In particular, subjects with stage IV had a two times higher probability of having either IL1B-31TT (or IL1B-511CC) genotype compared with stage I subjects. These observations suggest that IL1B-31TT and IL1B-511CC are associated with disease progression.
{ "name": "IL1B", "type": "GeneOrGeneProduct" }
{ "name": "gastric adenocarcinoma", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Association
<s>[INST]<<SYS>> Your task is to determine the relationship between a disease gastric adenocarcinoma and a variant T allele at -511 in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[gastric adenocarcinoma,DiseaseOrPhenotypicFeature]' and '[T allele at -511,SequenceVariant]'. - Title of the Paper: A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population. - Abstract of the Paper: [Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to the possibility that they may alter the IL1B transcription. The signal transduction target upon interleukin 1 beta (IL1beta) stimulation, the nuclear factor of kappa B (NFkappaB) activation, supports cancer development, signal transduction in which is mediated by FS-7 cell-associated cell surface antigen (FAS) signaling. Based on recent papers describing the prognostic roles of the polymorphisms and the NFkappaB functions on cancer development, we sought to determine if Japanese gastric cancer patients were affected by the IL1B -31/-511 and FAS-670 polymorphisms. A case-control study was conducted on incident gastric adenocarcinoma patients (n=271) and age-gender frequency-matched control subjects (n=271). We observed strong linkage disequilibrium between the T allele at -511 and the C allele at -31 and between the C allele at -511 and the T allele at -31 in IL1B in both the cases and controls (R (2)=0.94). Neither IL1B-31, -511 nor FAS-670 polymorphisms showed significantly different risks of gastric adenocarcinoma. Though FAS-670 polymorphisms did not show any significant difference, the proportion of subjects with IL1B-31TT (or IL1B-511CC) increased according to stage (trend P=0.019). In particular, subjects with stage IV had a two times higher probability of having either IL1B-31TT (or IL1B-511CC) genotype compared with stage I subjects. These observations suggest that IL1B-31TT and IL1B-511CC are associated with disease progression.] Identify how '[gastric adenocarcinoma,DiseaseOrPhenotypicFeature]' and '[T allele at -511,SequenceVariant]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population.
Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to the possibility that they may alter the IL1B transcription. The signal transduction target upon interleukin 1 beta (IL1beta) stimulation, the nuclear factor of kappa B (NFkappaB) activation, supports cancer development, signal transduction in which is mediated by FS-7 cell-associated cell surface antigen (FAS) signaling. Based on recent papers describing the prognostic roles of the polymorphisms and the NFkappaB functions on cancer development, we sought to determine if Japanese gastric cancer patients were affected by the IL1B -31/-511 and FAS-670 polymorphisms. A case-control study was conducted on incident gastric adenocarcinoma patients (n=271) and age-gender frequency-matched control subjects (n=271). We observed strong linkage disequilibrium between the T allele at -511 and the C allele at -31 and between the C allele at -511 and the T allele at -31 in IL1B in both the cases and controls (R (2)=0.94). Neither IL1B-31, -511 nor FAS-670 polymorphisms showed significantly different risks of gastric adenocarcinoma. Though FAS-670 polymorphisms did not show any significant difference, the proportion of subjects with IL1B-31TT (or IL1B-511CC) increased according to stage (trend P=0.019). In particular, subjects with stage IV had a two times higher probability of having either IL1B-31TT (or IL1B-511CC) genotype compared with stage I subjects. These observations suggest that IL1B-31TT and IL1B-511CC are associated with disease progression.
{ "name": "gastric adenocarcinoma", "type": "DiseaseOrPhenotypicFeature" }
{ "name": "T allele at -511", "type": "SequenceVariant" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a variant C-to-T substitution at -31 and a disease gastric adenocarcinoma in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a genetic variant is linked to an increased risk of a disease. This includes cases where the variant is more common in those with the disease, causes abnormal gene expression or non-functionality leading to the disease, results in a disease due to a protein deficiency for which the variant is responsible, contributes to genetic susceptibility to the disease, or has a significant impact on the development of the disease. 'Negative_Correlation' indicates that the variant decreases the risk of the disease. 'Association' means that a genetic variant found in some patients is linked to a lower chance of getting the disease, or it makes them less likely to develop the disease. It also covers relation that don't fit into a positive/negative correlation category or relation that are not clearly defined. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[C-to-T substitution at -31,SequenceVariant]' and '[gastric adenocarcinoma,DiseaseOrPhenotypicFeature]'. - Title of the Paper: A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population. - Abstract of the Paper: [Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to the possibility that they may alter the IL1B transcription. The signal transduction target upon interleukin 1 beta (IL1beta) stimulation, the nuclear factor of kappa B (NFkappaB) activation, supports cancer development, signal transduction in which is mediated by FS-7 cell-associated cell surface antigen (FAS) signaling. Based on recent papers describing the prognostic roles of the polymorphisms and the NFkappaB functions on cancer development, we sought to determine if Japanese gastric cancer patients were affected by the IL1B -31/-511 and FAS-670 polymorphisms. A case-control study was conducted on incident gastric adenocarcinoma patients (n=271) and age-gender frequency-matched control subjects (n=271). We observed strong linkage disequilibrium between the T allele at -511 and the C allele at -31 and between the C allele at -511 and the T allele at -31 in IL1B in both the cases and controls (R (2)=0.94). Neither IL1B-31, -511 nor FAS-670 polymorphisms showed significantly different risks of gastric adenocarcinoma. Though FAS-670 polymorphisms did not show any significant difference, the proportion of subjects with IL1B-31TT (or IL1B-511CC) increased according to stage (trend P=0.019). In particular, subjects with stage IV had a two times higher probability of having either IL1B-31TT (or IL1B-511CC) genotype compared with stage I subjects. These observations suggest that IL1B-31TT and IL1B-511CC are associated with disease progression.] Identify how '[C-to-T substitution at -31,SequenceVariant]' and '[gastric adenocarcinoma,DiseaseOrPhenotypicFeature]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Association']. [/INST]Positive_Correlation</s>
A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population.
Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to the possibility that they may alter the IL1B transcription. The signal transduction target upon interleukin 1 beta (IL1beta) stimulation, the nuclear factor of kappa B (NFkappaB) activation, supports cancer development, signal transduction in which is mediated by FS-7 cell-associated cell surface antigen (FAS) signaling. Based on recent papers describing the prognostic roles of the polymorphisms and the NFkappaB functions on cancer development, we sought to determine if Japanese gastric cancer patients were affected by the IL1B -31/-511 and FAS-670 polymorphisms. A case-control study was conducted on incident gastric adenocarcinoma patients (n=271) and age-gender frequency-matched control subjects (n=271). We observed strong linkage disequilibrium between the T allele at -511 and the C allele at -31 and between the C allele at -511 and the T allele at -31 in IL1B in both the cases and controls (R (2)=0.94). Neither IL1B-31, -511 nor FAS-670 polymorphisms showed significantly different risks of gastric adenocarcinoma. Though FAS-670 polymorphisms did not show any significant difference, the proportion of subjects with IL1B-31TT (or IL1B-511CC) increased according to stage (trend P=0.019). In particular, subjects with stage IV had a two times higher probability of having either IL1B-31TT (or IL1B-511CC) genotype compared with stage I subjects. These observations suggest that IL1B-31TT and IL1B-511CC are associated with disease progression.
{ "name": "C-to-T substitution at -31", "type": "SequenceVariant" }
{ "name": "gastric adenocarcinoma", "type": "DiseaseOrPhenotypicFeature" }
[ "Positive_Correlation", "Negative_Correlation", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a chemical cisplatin and a chemical CAA in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' indicates that Chemical A increases the effectiveness of Chemical B. This includes making Chemical B more sensitive, enhancing its ability to treat or induce a disease, or boosting its role in gene activation. 'Negative_Correlation' means that Chemical A reduces the effectiveness and impact of Chemical B. This includes decreasing Chemical B's sensitivity, reducing its ability to treat or induce a disease, diminishing its side effects, and lowering the gene activation it causes. 'Drug_Interaction' is when two different drugs or chemicals affect each other's action in the body, happening when they are used at the same time. 'Cotreatment' means that two different drugs or chemicals are used in combination therapy. 'Conversion' means that one chemical changes into another chemical. 'Comparison' means that two different drugs or chemicals have some differences and similarities in their effects. 'Association' refers to the relation between two chemicals that do not fit into any specific, predefined categories of relations. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[cisplatin,ChemicalEntity]' and '[CAA,ChemicalEntity]'. - Title of the Paper: Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. - Abstract of the Paper: [Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been reported from cell culture, animal and clinical studies. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. Free thiols were measured by the method of Ellman. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. Caspase activation by cisplatin was inhibited by CAA. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. This effect can be reduced by acidification. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients.] Identify how '[cisplatin,ChemicalEntity]' and '[CAA,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association']. [/INST]Negative_Correlation</s>
Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy.
Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been reported from cell culture, animal and clinical studies. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. Free thiols were measured by the method of Ellman. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. Caspase activation by cisplatin was inhibited by CAA. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. This effect can be reduced by acidification. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients.
{ "name": "cisplatin", "type": "ChemicalEntity" }
{ "name": "CAA", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Drug_Interaction", "Cotreatment", "Conversion", "Comparison", "Association" ]
Negative_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein caspase-8 and a chemical cisplatin in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a chemical leads to higher gene expression, or higher gene expression increases sensitivity to the chemical, or a gene variant exacerbates the chemical's side effects, or a gene causes an over-response to the chemical, or there is a positive interaction between two genes in any manner. 'Negative_Correlation' indicates that a chemical leads to reduced gene expression, or higher gene expression results in decreased sensitivity or resistance to the chemical, or a gene variant offers protection against the chemical's adverse effects, or a gene contributes to resistance against the chemical, or there exists a negative interaction between two genes in any form. 'Bind' means that a chemical either connects to a gene's promoter region or a protein acts as a receptor for that chemical. 'Association' is used to describe relation that don't clearly fall under categories like positive correlation, negative correlation and bind , or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[caspase-8,GeneOrGeneProduct]' and '[cisplatin,ChemicalEntity]'. - Title of the Paper: Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. - Abstract of the Paper: [Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been reported from cell culture, animal and clinical studies. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. Free thiols were measured by the method of Ellman. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. Caspase activation by cisplatin was inhibited by CAA. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. This effect can be reduced by acidification. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients.] Identify how '[caspase-8,GeneOrGeneProduct]' and '[cisplatin,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. [/INST]Positive_Correlation</s>
Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy.
Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been reported from cell culture, animal and clinical studies. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. Free thiols were measured by the method of Ellman. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. Caspase activation by cisplatin was inhibited by CAA. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. This effect can be reduced by acidification. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients.
{ "name": "caspase-8", "type": "GeneOrGeneProduct" }
{ "name": "cisplatin", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Bind", "Association" ]
Positive_Correlation
<s>[INST]<<SYS>> Your task is to determine the relationship between a gene or protein caspase-3 and a chemical cisplatin in a medical text. Choose the correct relation from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association'], based only on the information provided in the text.The meanings of each relation type are as follows: 'Positive_Correlation' means that a chemical leads to higher gene expression, or higher gene expression increases sensitivity to the chemical, or a gene variant exacerbates the chemical's side effects, or a gene causes an over-response to the chemical, or there is a positive interaction between two genes in any manner. 'Negative_Correlation' indicates that a chemical leads to reduced gene expression, or higher gene expression results in decreased sensitivity or resistance to the chemical, or a gene variant offers protection against the chemical's adverse effects, or a gene contributes to resistance against the chemical, or there exists a negative interaction between two genes in any form. 'Bind' means that a chemical either connects to a gene's promoter region or a protein acts as a receptor for that chemical. 'Association' is used to describe relation that don't clearly fall under categories like positive correlation, negative correlation and bind , or when the nature of the relation lack a clear description. <</SYS>> Examine the abstract and title of a medical research paper to determine the relationship between the entities '[caspase-3,GeneOrGeneProduct]' and '[cisplatin,ChemicalEntity]'. - Title of the Paper: Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. - Abstract of the Paper: [Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been reported from cell culture, animal and clinical studies. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. Free thiols were measured by the method of Ellman. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. Caspase activation by cisplatin was inhibited by CAA. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. This effect can be reduced by acidification. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients.] Identify how '[caspase-3,GeneOrGeneProduct]' and '[cisplatin,ChemicalEntity]' are related in the text, focusing on their interactions or associations. Then, select the most accurate relationship type from ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. [/INST]Positive_Correlation</s>
Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy.
Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been reported from cell culture, animal and clinical studies. In this work the effect of CAA on human proximal tubule cells in primary culture (hRPTEC) was investigated. Toxicity of CAA was determined by protein content, cell number, LDH release, trypan blue exclusion assay and caspase-3 activity. Free thiols were measured by the method of Ellman. CAA reduced hRPTEC cell number and protein, induced a loss in free intracellular thiols and an increase in necrosis markers. CAA but not acrolein inhibited the cysteine proteases caspase-3, caspase-8 and cathepsin B. Caspase activation by cisplatin was inhibited by CAA. In cells stained with fluorescent dyes targeting lysosomes, CAA induced an increase in lysosomal size and lysosomal leakage. The effects of CAA on cysteine protease activities and thiols could be reproduced in cell lysate. Acidification, which slowed the reaction of CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. This effect can be reduced by acidification. Therefore, urinary acidification could be an option to prevent IFO nephropathy in patients.
{ "name": "caspase-3", "type": "GeneOrGeneProduct" }
{ "name": "cisplatin", "type": "ChemicalEntity" }
[ "Positive_Correlation", "Negative_Correlation", "Bind", "Association" ]
Positive_Correlation