PubMed:10233437 JSONTXT

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"10233437-5#73#85#geners397507444","span":{"begin":800,"end":812},"obj":"geners397507444"},{"id":"10233437-5#107#110#diseaseC0584960","span":{"begin":834,"end":837},"obj":"diseaseC0584960"},{"id":"10233437-6#51#63#geners397507444","span":{"begin":1014,"end":1026},"obj":"geners397507444"},{"id":"10233437-6#89#92#diseaseC0149871","span":{"begin":1052,"end":1055},"obj":"diseaseC0149871"}],"relations":[{"id":"73#85#geners397507444107#110#diseaseC0584960","pred":"associated_with","subj":"10233437-5#73#85#geners397507444","obj":"10233437-5#107#110#diseaseC0584960"},{"id":"51#63#geners39750744489#92#diseaseC0149871","pred":"associated_with","subj":"10233437-6#51#63#geners397507444","obj":"10233437-6#89#92#diseaseC0149871"}],"text":"A second mutation in the methylenetetrahydrofolate reductase gene and the risk of venous thrombotic disease.\nWe assessed the effect of a recently described mutation in the MTHFR gene (1298 A --\u003e C) on the risk of deep venous thrombosis (DVT) by determining its prevalence in 190 patients with verified DVT and in age-, race- and gender-matched controls. MTHFR 1298 A --\u003e C was found in 42.1% of patients and in 41.1% of controls. The OR for venous thrombosis was 1.07 (95% CI 0.70-1.65) for heterozygotes and 0.83 (95% CI 0.33-2.08) for homozygotes. The OR for the factor V Leiden (FVL) mutation was 3.40 (95% CI 1.22-9.48), for FII 20210 G --\u003e A was 5.22 (95% CI 1.12-24.2) and for MTHFR 677 C --\u003e T, 1.24 (95% CI 0.82-1.87). No significant increased risk for venous thrombosis was found when MTHFR 1298 A --\u003e C was coinherited with FVL (OR 2.85, 95% CI 0.88-9.23), FII 20210 G --\u003e A (OR 7.19, 95% CI 0.87-59.4) or MTHFR 677 C --\u003e T (OR 1.44, 95% CI 0.71-2.92). These data do not support a critical role of MTHFR 1298 A --\u003e C in the predisposition to DVT."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10233437-4#15#30#gene2153","span":{"begin":565,"end":580},"obj":"gene2153"},{"id":"10233437-4#32#35#diseaseC0584960","span":{"begin":582,"end":585},"obj":"diseaseC0584960"},{"id":"10233437-5#67#72#gene4524","span":{"begin":794,"end":799},"obj":"gene4524"},{"id":"10233437-5#189#194#gene4524","span":{"begin":916,"end":921},"obj":"gene4524"},{"id":"10233437-5#107#110#diseaseC0584960","span":{"begin":834,"end":837},"obj":"diseaseC0584960"},{"id":"10233437-6#45#50#gene4524","span":{"begin":1008,"end":1013},"obj":"gene4524"},{"id":"10233437-6#89#92#diseaseC0149871","span":{"begin":1052,"end":1055},"obj":"diseaseC0149871"}],"relations":[{"id":"15#30#gene215332#35#diseaseC0584960","pred":"associated_with","subj":"10233437-4#15#30#gene2153","obj":"10233437-4#32#35#diseaseC0584960"},{"id":"67#72#gene4524107#110#diseaseC0584960","pred":"associated_with","subj":"10233437-5#67#72#gene4524","obj":"10233437-5#107#110#diseaseC0584960"},{"id":"189#194#gene4524107#110#diseaseC0584960","pred":"associated_with","subj":"10233437-5#189#194#gene4524","obj":"10233437-5#107#110#diseaseC0584960"},{"id":"45#50#gene452489#92#diseaseC0149871","pred":"associated_with","subj":"10233437-6#45#50#gene4524","obj":"10233437-6#89#92#diseaseC0149871"}],"text":"A second mutation in the methylenetetrahydrofolate reductase gene and the risk of venous thrombotic disease.\nWe assessed the effect of a recently described mutation in the MTHFR gene (1298 A --\u003e C) on the risk of deep venous thrombosis (DVT) by determining its prevalence in 190 patients with verified DVT and in age-, race- and gender-matched controls. MTHFR 1298 A --\u003e C was found in 42.1% of patients and in 41.1% of controls. The OR for venous thrombosis was 1.07 (95% CI 0.70-1.65) for heterozygotes and 0.83 (95% CI 0.33-2.08) for homozygotes. The OR for the factor V Leiden (FVL) mutation was 3.40 (95% CI 1.22-9.48), for FII 20210 G --\u003e A was 5.22 (95% CI 1.12-24.2) and for MTHFR 677 C --\u003e T, 1.24 (95% CI 0.82-1.87). No significant increased risk for venous thrombosis was found when MTHFR 1298 A --\u003e C was coinherited with FVL (OR 2.85, 95% CI 0.88-9.23), FII 20210 G --\u003e A (OR 7.19, 95% CI 0.87-59.4) or MTHFR 677 C --\u003e T (OR 1.44, 95% CI 0.71-2.92). These data do not support a critical role of MTHFR 1298 A --\u003e C in the predisposition to DVT."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":172,"end":177},"obj":"gene:4524"},{"id":"T1","span":{"begin":213,"end":235},"obj":"disease:C0149871"},{"id":"T2","span":{"begin":172,"end":177},"obj":"gene:4524"},{"id":"T3","span":{"begin":237,"end":240},"obj":"disease:C0149871"},{"id":"T4","span":{"begin":172,"end":177},"obj":"gene:4524"},{"id":"T5","span":{"begin":302,"end":305},"obj":"disease:C0149871"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"A second mutation in the methylenetetrahydrofolate reductase gene and the risk of venous thrombotic disease.\nWe assessed the effect of a recently described mutation in the MTHFR gene (1298 A --\u003e C) on the risk of deep venous thrombosis (DVT) by determining its prevalence in 190 patients with verified DVT and in age-, race- and gender-matched controls. MTHFR 1298 A --\u003e C was found in 42.1% of patients and in 41.1% of controls. The OR for venous thrombosis was 1.07 (95% CI 0.70-1.65) for heterozygotes and 0.83 (95% CI 0.33-2.08) for homozygotes. The OR for the factor V Leiden (FVL) mutation was 3.40 (95% CI 1.22-9.48), for FII 20210 G --\u003e A was 5.22 (95% CI 1.12-24.2) and for MTHFR 677 C --\u003e T, 1.24 (95% CI 0.82-1.87). No significant increased risk for venous thrombosis was found when MTHFR 1298 A --\u003e C was coinherited with FVL (OR 2.85, 95% CI 0.88-9.23), FII 20210 G --\u003e A (OR 7.19, 95% CI 0.87-59.4) or MTHFR 677 C --\u003e T (OR 1.44, 95% CI 0.71-2.92). These data do not support a critical role of MTHFR 1298 A --\u003e C in the predisposition to DVT."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":213,"end":235},"obj":"HP_0002625"},{"id":"T2","span":{"begin":218,"end":235},"obj":"HP_0004936"},{"id":"T3","span":{"begin":441,"end":458},"obj":"HP_0004936"},{"id":"T4","span":{"begin":761,"end":778},"obj":"HP_0004936"}],"text":"A second mutation in the methylenetetrahydrofolate reductase gene and the risk of venous thrombotic disease.\nWe assessed the effect of a recently described mutation in the MTHFR gene (1298 A --\u003e C) on the risk of deep venous thrombosis (DVT) by determining its prevalence in 190 patients with verified DVT and in age-, race- and gender-matched controls. MTHFR 1298 A --\u003e C was found in 42.1% of patients and in 41.1% of controls. The OR for venous thrombosis was 1.07 (95% CI 0.70-1.65) for heterozygotes and 0.83 (95% CI 0.33-2.08) for homozygotes. The OR for the factor V Leiden (FVL) mutation was 3.40 (95% CI 1.22-9.48), for FII 20210 G --\u003e A was 5.22 (95% CI 1.12-24.2) and for MTHFR 677 C --\u003e T, 1.24 (95% CI 0.82-1.87). No significant increased risk for venous thrombosis was found when MTHFR 1298 A --\u003e C was coinherited with FVL (OR 2.85, 95% CI 0.88-9.23), FII 20210 G --\u003e A (OR 7.19, 95% CI 0.87-59.4) or MTHFR 677 C --\u003e T (OR 1.44, 95% CI 0.71-2.92). These data do not support a critical role of MTHFR 1298 A --\u003e C in the predisposition to DVT."}