title: 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.
authors.affiliation: Department of Genetics, Postgraduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul (UFRGS) , Porto Alegre , Brazil.
authors.forename: Caroline Gross
authors.initials: CG
authors.lastname: Dutra
authors.forename: Lucas Rosa
authors.initials: LR
authors.lastname: Fraga
authors.forename: Andréa Prestes
authors.initials: AP
authors.lastname: Nácul
authors.forename: Eduardo Pandolfi
authors.initials: EP
authors.lastname: Passos
authors.forename: Rozana Oliveira
authors.initials: RO
authors.lastname: Gonçalves
authors.forename: Olívia Lucia
authors.initials: OL
authors.lastname: Nunes
authors.forename: Bibiane Armiliato
authors.initials: BA
authors.lastname: De Godoy
authors.forename: Sandra
authors.initials: S
authors.lastname: Leistner-Segal
authors.forename: Fernanda Sales Luiz
authors.initials: FS
authors.lastname: Vianna
authors.forename: Lavínia
authors.initials: L
authors.lastname: Schüler-Faccini
authors.forename: Maria Teresa Vieira
authors.initials: MT
authors.lastname: Sanseverino
mesh_terms: D000026:Abortion, Habitual / Q000097:blood / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005165:Factor V / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D016015:Logistic Models; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D052250:Nitric Oxide Synthase Type III / Q000235:genetics; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000097:blood / Q000235:genetics*; D011516:Prothrombin / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D019851:Thrombophilia / Q000235:genetics* / Q000503:physiopathology; D055815:Young Adult
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D004247:DNA; D052250:Nitric Oxide Synthase Type III; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: MTHFR; Recurrent pregnancy loss; eNOS; thrombophilia