Homocysteine Concentrations in Heterozygote MTHFR (677C-T) and Factor V (1691 G-A) Mutation-carrying Individuals with the History of Thromboembolic Disease

Abstract

Objective: Factor V (FV) (1691 G-A) and methylenetetrahydrofolate reductase (MTHFR) (677 C-T) mutations have been identified as potential risk factors for cardiovascular disease. In this study, we determined vitamin B-12, folate, and total homocysteine t(Hcy) concentrations in heterozygote MTHFR (677 C-T) and FV (1691 G-A) mutation-carrying individuals. Materials and Methods: The study included a total of 74 individuals with MTHFR (677 C-T) or FV (1691 G-A) mutations and 70 controls. All subjects had the history of thromboembolic disease. t(Hcy), folate, and vitamin B-12 concentrations were compared between the groups. Results: A significant difference was found in vitamin B-12 and folate concentrations between patients and controls in the MTHFR (677 C-T) group (p=0.041, p=0.049, respectively). Further, t(Hcy) concentrations were found to be higher in patients than in controls in the FV (1691 G-A) mutation-carrying group (p=0.002). No significant difference was found between the groups in relation with gender in both mutations. Conclusion: t(Hcy) concentrations should be assessed to decrease the risk of future venous thromboembolism in the presence of heterozygote FV (1691 G-A) mutation.