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

ABSTRACT

Two factors alleged to cause thrombophilia in women with unexplained recurrent spontaneous abortion [RSA] are the MTHFR polymorphisms including C677T and A1298C. This case-control study was aimed to determine the association between RSA and two polymorphisms of MTHFR in Iranian patients. 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 SPSS program via the 2chi method. The Sperman method was also used to evaluate the correlation between the two polymorphisms. The data presented in this study have shown a significant correlation between MTHFR C677T and MTHFR A1298C polymorphisms. 17 women [56.6%] with recurrent spontaneous abortions and 5 women [50%] among the controls were heterozygote for MTFIFR 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 patient 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. The prevalence of MTHFR C677T and MTHFR A1298C polymorphisms were slightly, but not significantly, 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