title: Estrogen receptor alpha and beta gene polymorphisms are not risk factors for recurrent miscarriage in a Brazilian population.
abstract: The aim of this study was to determine the prevalence of alpha (ESR1: c.454-397T>C and c.454-351A>G) and beta (ESR2: 1082G>A and 1730G>A) estrogen receptor gene polymorphisms in 2 Brazilian ethnic groups (Caucasian, African Brazilian) and to investigate their association with recurrent miscarriage (RM) in 75 women with a history of 3 or more consecutive pregnancy losses and 139 controls with at least 2 live births and no history of pregnancy loss. Polymerase chain reaction and restriction fragment length polymorphism were used to identify gene polymorphisms. Coagulation methods were used to measure protein C, protein S, and fibrinogen, and a chromogenic method was used for antithrombin quantification. Significantly higher prevalences of 1082G>A and 1730G>A polymorphisms were seen in African Brazilian and Caucasian controls, respectively. There was no association between RM and ESR polymorphisms. There was a difference in the genotype prevalence in the c.454-39T>C polymorphism between RM and control Caucasians, but this finding was not associated with an increased risk of miscarriage. There was no synergistic or additive effect between ESR polymorphisms and thrombophilia in RM patients. A difference in the prevalence of ESR polymorphisms was observed, according to ethnic origin. ESR polymorphisms could not be considered a risk factor for RM.
authors: Hematology and Hemotherapy Center, Department of Gynecology, Faculty of Medical Sciences, State University of Campinas, São Paulo, Brazil.
authors: Aline Morandi
authors: AM
authors: Aléssio
authors: Lúcia Helena
authors: LH
authors: Siqueira
authors: Egle Cristina Couto
authors: EC
authors: de Carvalho
authors: Ricardo
authors: R
authors: Barini
authors: Antônio de Pádua
authors: Ade P
authors: Mansur
authors: Nelci Fenalti
authors: NF
authors: Hoehr
authors: Joyce Maria
authors: JM
authors: Annichino-Bizzacchi
mesh_terms: D000026:Abortion, Habitual / Q000209:etiology* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D047628:Estrogen Receptor alpha / Q000235:genetics*; D047629:Estrogen Receptor beta / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011247:Pregnancy; D012307:Risk Factors
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha; D047629:Estrogen Receptor beta; D042965:Methylenetetrahydrofolate Reductase (NADPH2)