Association of C677T and A1298C polymorphisms of the MTHFR gene with recurrent pregnancy loss

Pathogenesis of the recurrent pregnancy loss (RPL) includes various genetic and environmental factors. The role of coagulation factors during pregnancy plays an important role in RPL. Recently، hereditary thrombophilia has been recognized as an agent of RPL. This study discussed the association between C677T and A1298C polymorphisms of MTHFR gene with RPL. Participants in this study were included 105 female with two or more who were in RPL condition and 98 healthy female participants with two or more children who were in control condition. DNA extracted from their leukocytes، and the status of the C677T and A1298C polymorphisms were determined by PCR-RFLP amplifying the corresponding region of genomic DNA followed by treatment with restriction enzymes HinfI and MboII، respectively. The results were analyzed by chi-square test. It was shown that the proportion of women with 677TT/677CT genotypes were significantly more in the RPL group in comparison with normal healthy ladies (p=0. 002). The same result was obtained for 1298CC/1298AC (p=0. 001). The allelic frequency for each variant also showed significant difference between RPL groups as compared with normal control. In the present study the association between the MTHFR polymorphism and RPL was statistically significant.