Lack of association between thrombophilic gene variants and recurrent pregnancy loss

Abstract

Recurrent pregnancy loss (RPL) is defined as the occurrence of two or more consecutive pregnancy losses. It is an important reproductive condition with a complex etiology. In approximately 50% of RPL cases an explanation for the cause is not found and they are therefore classified as idiopathic RPL. One of the causes implicated in RPL is thrombophilia, which consists of hemostatic disorders that lead to an increase in thromboembolic processes. The aim of this study was to evaluate polymorphic variants in genes related to thrombophilia as a risk factor in women with RPL. We investigated 145 women with at least two consecutive pregnancy losses and 135 women with at least two children and no history of pregnancy loss. Genotypes for the polymorphisms MTHFR C677T, FVL, FII (prothrombin), eNOS T-786C, and eNOS Glu298Asp were determined using a real-time PCR. Information about the exposure to environmental risk factors was also collected. There was no significant association between the environmental risk factors assessed and the polymorphisms studied. We did not find statistically significant differences in genotypic or allelic frequencies for the polymorphisms studied, in either the women with RPL or in the control group. Such polymorphisms should therefore not be considered as risk factors for this condition in this population.

Association between the thrombophilic polymorphisms MTHFR C677T, Factor V Leiden, and prothrombin G20210A and recurrent miscarriage in Brazilian women

“…This could be attributed to the small sample size, which is inadequate for evaluating the FVL and FII mutations. Dutra et al (2014), Baumann et al (2013), and Serrano et al (2011) have reported results similar to ours. However, the results reported by Govindaiah et al (2009) and Settin et al (2011) were contradictory to those reported herein.…”

Polymorphisms of methalenetetrahydrofolate reductase in recurrent pregnancy loss: an overview of systematic reviews and meta-analyses

“…High level of homocysteine leads to RPL with pathway of Hcy toxicity such as homocysteinylation, oxidative stress induction, and biotoxicity itself [38]. While numerous primary studies and systematic reviews have investigated the correlation between MTHFR polymorphisms and RPL, the outcome of this research remains unclear, and even controversial when comparing across different authors [39]. When comparing OR and 95%CI in Allele model conducted in this current study with the results from previous systematic reviews, it was evident that the C677T polymorphism could represent a risk marker for RPL, especially in Asian population.…”

Gene polymorphism associated with endothelial nitric oxide synthase (4VNTR, G894T, C786T) and unexplained recurrent spontaneous abortion risk

“…[14–29] Among the included articles, sixteen (16) studies [9–11,15–26] reported the association between 4VNTR A/B gene mutation and URSA with 2451 cases and 2088 controls. Twelve (12) articles [9–11,22,24,27–29] demonstrated the relationship between G894T and URSA with 2232 cases and 2121 controls involving 4 continents. Nine (9) studies [9,15,20,22,24,29] described the connection between C786T and URSA with 1899 cases and 1294 controls.…”