Association of Thrombophilia Gene Polymorphisms With Second Trimester Recurrent Pregnancy Loss in Iranian Women

Fatemeh Karami, Behnam Mahdavi, Fatemeh Eskandari, Saeed Sabbaghi

Abstract

Background and Aim: Thrombophilia gene variants are considered one of the major genetic contributors to recurrent pregnancy loss (RPL); however, evidence across populations remains inconsistent. In this study, the association between thrombophilia gene polymorphisms (MTHFR C677T, MTHFR A1298C, factor V Leiden G1691A, and prothrombin G20210A) and the risk of RPL in Iranian women was investigated, with emphasis on second-trimester miscarriages.

Materials and Methods: Polymerase chain reaction–restriction fragment length polymorphism was performed on DNA samples from 122 women with a history of at least two consecutive spontaneous abortions during the second trimester, and 97 women in the healthy control group. Genotyping targeted the A1298C and C677T polymorphisms of the MTHFR gene, as well as G1691A and G20210A variants of the factor V and factor II genes, respectively.

Results and Discussion: Except for the A1298C polymorphism of the MTHFR gene, no significant association was found for the other variants. The combined analysis of all studied polymorphisms and the combination of both MTHFR gene variants demonstrated a significant association with the risk for RPL.

Conclusion: A detailed obstetric history in both case and control groups can help further elucidate the role of thrombophilia gene polymorphisms in the risk for RPL.