Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:1.5.7.1 (methylenetetrahydrofolate reductase)
 2,116 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To evaluate the significance of common thrombophilic genotypes in subjects with idiopathic antiphospholipid antibodies (aPL) we determined the methylenetetrahydrofolate reductase C677-->T (MTHFR) and factor V A506-->G (FV Leiden) polymorphisms in 49 subjects with idiopathic aPL (57% of whom suffered spontaneous vein thrombosis), in 70 subjects with a history of spontaneous vein thrombosis and in 193 healthy subjects. The prevalence of MTHFR C677-->T+/+ (homozygotes) was 25%, 18% and 17% respectively amongst aPL thrombotics, non aPL thrombotics and controls and that of MTHFR C677-->T+/- (heterozygotes) was 53%, 59% and 53% respectively in the same groups. The prevalence of FV Leiden was higher in aPL thrombotics (14%) and in non aPL thrombotics (18%) than in controls (4%) (p < or = 0.05). APL thrombotics with MTHFR C677-->T+/+ had a lower mean age at first thrombotic event (22 +/- 6 years) than aPL thrombotics with MTHFR C677-->T+/- and non mutated considered together (38 +/- 14 years, p = 0.0004) and than non aPL thrombotics with MTHFR C677-->T+/+ (38 +/- 14 years, p = 0.003). FV Leiden may contribute to the hypercoagulability of a small, albeit significant proportion of thrombotic aPL subjects, whereas the association between MTHFR C677-->T+/+ and aPL may have an impact on age at first occlusive event and suggests a possible pathogenetic interaction.
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PMID:Thrombophilic genotypes in subjects with idiopathic antiphospholipid antibodies--prevalence and significance. 945 21