The A1298C Mutation in Methylenetetrahydrofolate Reductase Gene and Its Association With Idiopathic Venous Thrombosis in an Iranian Population

Abstract

Background: Venous thrombosis (VT) is an important cause of mortality and morbidity resulting from acquired and inherited factors. The A1298C mutation of the methylenetetrahydrofolate reductase (MTHFR) gene remains a controversial risk factor for VT. In this study we investigated a possible association between A1298C mutation in the MTHFR gene and fasting hyperhomocysteinemia with VT. Materials and Methods: The study was comprised of 200 patients with a diagnosis of VT and 100 healthy subjects as a control. A1298C mutation analysis was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method and homocysteine measurement was carried out by enzyme immunoassay. Results: The prevalence of A1298C genotypes between patients and controls was almost similar (P=0.9). The frequency of the 1298C allele was 38.5% and 36.5% in patients and controls, respectively, and did not differ significantly between the 2 groups (odds ratio [OR], 0.811, 95% CI [0.566-1.183], P=0.29). The fasting plasma total homocysteine level was significantly higher in patients than controls (P=0.001). Conclusions: We concluded that hyperhomocysteinemia but not MTHFR A1298C mutation is a significant risk factor for VT in the Iranian population.