Evaluation of the Association between the C677T Polymorphism of Methylenetetrahydrofolate Reductase Gene and Recurrent Spontaneous Abortion

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Introduction: One factor known to cause thrombophilia in women with unexplained recurrent spontaneous abortion (RSA) is C677T polymorphism of methylenetetrahydrofolate reductase gene. This study aimed to determine the association between RSA and MTHFR C677T polymorphism in Iranian patients. Methods: In this case-control study, 30 patients with previous history of two or more consecutive unexplained abortions, and 10 women with at least two live births without a miscarriage were analyzed for MTHFR C677T polymorphism using PCR-RFLP (PCR-Restriction Fragment Length Polymorphism) method; the  study was carried out on patients referring to Baqiyatallah Hospital and Avicenna Infertility Clinic. The results obtained via estimating the genotype of each polymorphism were analyzed by SPSS version 16. Results: Seventeen women (56.6 %) with recurrent spontaneous abortions and 5 women (50 %) from the control group were heterozygous for MTHFR C677T polymorphism. T-allele frequency in the experiment group was higher than the control group (28.4 % and 25 % for the experiment and control group, respectively). Conclusion: The prevalence of MTHFR C677T polymorphism was slightly higher in RSA patients compared with the controls. This finding failed to support the relationship between this polymorphism and the increasing risk of RSA in the evaluated Iranian women.