Evaluation of the association between the C677T and A1298C polymorphisms of MTHFR gene and recurrent miscarriage

Background and ObjectivesTwo factors known to cause thrombophilia in women with unexplained recurrent spontaneous abortion (RSA) are MTHFR polymorphisms including C677T and A1298C. This study aimed to determine the association between RSA and two polymorphisms of MTHFR in Iranian patients.Materials and MethodsIn this case-control study, 30 patients with the background 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 C677T and A1298C polymorphisms by the PCR-RFLP method. Results achieved from estimating the genotype of each polymorphism were analyzed by the SPSS16. The Spearman method was also used to evaluate the correlation between the two polymorphisms.ResultsData has shown a significant correlation between MTHFR C677T and MTHFR A1298C polymorphisms. Seventeen women (56.6%) with recurrent spontaneous abortions and 5 women (50%) among the controls were heterozygote for MTHFR C677T polymorphism. T allele frequency in the patient group was more than the control group (28.4% for patients and 25% for controls). Frequency of the MTHFR A1298C polymorphism was 63.3% in patients and 50% in controls. For A1298C polymorphism, 43.3% of patients and 20% of controls were heterozygote. Furthermore, 20% of patients and 30% of controls were homozygote for this polymorphism.ConclusionsThe prevalence of MTHFR C677T and MTHFR A1298C polymorphisms were slightly higher in RSA patients compared to controls. These findings failed to support the relationship between thrombophilia polymorphisms and the increasing risk of RSA in evaluated Iranian women.