Association between the A1298C Polymorphism of the Methylenetetrahydrofolate Reductase Gene and Recurrent Spontaneous Abortion

Introduction: A factor known to cause thrombophilia in women with recurrent pregnancy loss (RPL) is the A1298C polymorphism of methylenetetrahydrofolate reductase gene (MTHFR). This study aimed to determine the association between RPL and this polymorphism in Iranian patients. Methods: In this case-control study, 30 patients with a previous history of two or more consecutive unexplained abortions and 10 women with at least two live births without a miscarriage, who  referred to Baqiyatallah Hospital and Avicenna Infertility Clinic, were analyzed for MTHFR A1298C polymorphism using PCR-RFLP method. The results obtained via estimating the genotype of each polymorphism were analyzed using SPSS v16.   Results: Thirteen subjects (43.3 %) with RPL and 6 women (20 %) in the control group were heterozygous for MTHFR A1298C polymorphism. C allele frequency in the patient group was higher than the control group (41.7% and 40% for the patient and control groups, respectively). Conclusion: The prevalence of MTHFR A1298C polymorphism was slightly higher in RPL patients compared to the controls. This finding failed to support the relationship between this polymorphism and the increasing risk of RPL in the evaluated Iranian women.

Keywords:

Methylenetetrahydrofolate reductase (NADPH2) , Polymorphism (genetic) , Spontaneous abortion , Thrombophilia