Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphism in Iranian Women With Idiopathic Recurrent Pregnancy Losses

Recurrent pregnancy loss (RPL) is a serious problem for pregnancy. There is evidence that vascular complications play a principal role in RPL. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. Polymorphisms (C677T, A1298C) of MTHFR gene are associated with decreased MTHFR activity. The aim of this study was to determine the association between MTHFR polymorphisms (C677T and A1298C) and recurrent pregnancy loss (RPL) in Iranian women. In this case-control study, blood samples were obtained from patients who had three or more consecutive pregnancy losses before the 22nd week of pregnancy (n = 204). The control group consisted of 116 age-matched women with at least one alive child and without any history of pregnancy loss or other gestational complications (n = 116). Following DNA extraction, samples were tested for MTHFR C677T and A1298C polymorphisms using the reverse hybridization method. The prevalence of 677TT mutation was 8.8% (18/204) in the patient group and 8.6% (10/116) in the control group (P = 0.434). The prevalence of 1298CC mutation was 12.3 % (25/204) in the patient group and 8% (9/116) in the control group (P = 0.155). Investigation of the distributions of various genotypes of MTHFR C677T and A1298C did not indicate a significant difference between patients with RPL and healthy control subjects. The results suggest that MTHFR mutations might not be associated with RPL in the examined population.