Association of Homozygous Thrombophilia Polymorphisms and Venous Thromboembolism in Shahrekord, Iran

BACKGROUND Venous thromboembolism (VTE) is a major cause of mortality. Factor V Leiden (FVL), methylenetetrahydrofolate reductase (MTHFR) C677T, and prothrombin (FII) G20210A polymorphisms are the main inherited risk factors for VTE. Since evidence is limited on homozygotes, the aim of this study was to investigate the association between homozygous variants of these polymorphisms and VTE in Shahrekord, southwest Iran. MATERIALS AND METHODS In this case-control study, blood samples of 72 VTE patients admitted to Hajar Hospital, Shahrekord and 306 sex- and age-matched healthy volunteers as controls were taken in EDTA Vacutainers. The polymorphisms of FVL, MTHFR C677T, and FIIG20210A were investigated by PCR-RFLP. The data were analyzed by descriptive statistics and independent t-test. RESULTS The frequency of all homozygous polymorphisms was found to be 16.77% in patients and 4.90% in controls with a significant difference (P=0.004). Homozygous FVL mutation was more frequent in patients than in controls with no significant difference. Regarding the frequency of homozygous MTHFR C677T, a significant difference was noted between patients and controls (P=0.03). There was no significant difference in homozygous FIIG20210A and heterozygous variants of the above-mentioned polymorphisms between the patients and controls. CONCLUSION Homozygous MTHFR C677T polymorphism is associated with VTE in Shahrekord. Control of the acquired risk factors may be necessary in homozygous form of this polymorphism. VTE patients with this polymorphism may need to be managed differently.