A second mutation in the methylenetetrahydrofolate reductase gene and the risk of venous thrombotic disease

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Summary We assessed the effect of a recently described mutation in the MTHFR gene (1298 A [arrow right] 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 [arrow right] 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 [arrow right] A was 5.22 (95% CI 1.12-24.2) and for MTHFR 677 C [arrow right] T, 1.24 (95% CI 0.82-1.87). No significant increased risk for venous thrombosis was found when MTHFR 1298 A [arrow right] C was coinherited with FVL (OR 2.85, 95% CI 0.88-9.23), FII 20210 G [arrow right] A (OR 7.19, 95% CI 0.87-59.4) or MTHFR 677 C [arrow right] T (OR 1.44, 95% CI 0.71-2.92). These data do not support a critical role of MTHFR 1298 A [arrow right] C in the predisposition to DVT.

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