VPB1418 - Factor V Leiden polymorphism, prothrombin G20210A mutation, and methylenetetrahydrofolate reductase C677T polymorphism in recurrent pregnancy loss.

Background: Recurrent pregnancy loss (RPL) is a major public health problem. Although the prominent effect of acquired thrombophilia is well established, studies of the involvement of the hereditary thrombophilia remain controversial.

Aims: Therefore, our objective was aimed to explore the incidence and the role of genetic prothrombotic markers as risk factors for RPL in the south of Tunisia.

Methods: 67 women who presented RPL were enrolled in this study. The detection of factor V Leiden (FVL) G1691A polymorphism and the prothrombin G20210A mutation were performed by PCR-AS (polymerase chain reaction-specific allele) while the MTHFR C677T polymorphism was established by PCR-RFLP (polymerase chain reaction -Restriction fragment length polymorphism). Statistics were based on chi-square tests (chi²).

Results: The mean age of our patients was 31 ± 6 years. Our study revealed polymorphisms as follows: FVL G1691A (21% heterozygous and 3% homozygous variants), MTHFR C677T (50.7% heterozygous and 10.5% homozygous variants). However, results showed a total absence of prothrombin G20210A mutation in both patients and the control group. Added to that, a significant incidence of FVL heterozygosity was found in our patients with a 2.597 times increase of the risk of RPL (Odds Ratio (OR): 2.597; 95% CI (1.005-6.709)). Furthermore, the MTHFR heterozygosity presented a significant incidence in our series with a 1.515 times rise of the RPL’s risk (OR 1.515; 95% CI (0.993-2.311)). The statistical association of both FVL and MTHFR polymorphisms in the heterozygous form increased the risk of RPL over 2.749 times (OR: 2.749; 95% CI (1.331-5.679)).

Conclusion(s): Our study confirms the involvement of the heterozygosity of both FVL and MTHFR C677T polymorphism in the RPL's occurrence. Also, homozygous variants have been found only in patients. Therefore, rising the number of analyzed samples would be necessary to have a better molecular profile of women and to ensure an better monitoring.