Dutra Caroline Gross, Fraga Lucas Rosa, Nácul Andréa Prestes, Passos Eduardo Pandolfi, Gonçalves Rozana Oliveira, Nunes Olívia Lucia, De Godoy Bibiane Armiliato, Leistner-Segal Sandra, Vianna Fernanda Sales Luiz, Schüler-Faccini Lavínia, Sanseverino Maria Teresa Vieira
Department of Genetics, Postgraduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul (UFRGS) , Porto Alegre , Brazil.
Hum Fertil (Camb). 2014 Jun;17(2):99-105. doi: 10.3109/14647273.2014.882022. Epub 2014 Feb 24.
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.
复发性流产(RPL)定义为连续发生两次或更多次流产。它是一种病因复杂的重要生殖疾病。在大约50%的RPL病例中,病因未明,因此被归类为特发性RPL。RPL的病因之一是易栓症,它由导致血栓栓塞过程增加的止血障碍组成。本研究的目的是评估与易栓症相关基因的多态性变体作为RPL女性的危险因素。我们调查了145名至少连续两次流产的女性和135名至少有两个孩子且无流产史的女性。使用实时PCR测定多态性MTHFR C677T、FVL、FII(凝血酶原)、eNOS T-786C和eNOS Glu298Asp的基因型。还收集了有关环境危险因素暴露的信息。评估的环境危险因素与研究的多态性之间没有显著关联。在RPL女性或对照组中,我们没有发现所研究多态性的基因型或等位基因频率有统计学显著差异。因此,在该人群中,此类多态性不应被视为该疾病的危险因素。