• PMID: 21823190
• Gene Name: ESR2
• Condition: Male infertility
• Association: In the Brazilian population, genetic variations in both estrogen receptors alpha (PvuII and XbaI) and beta (AluI and RsaI) were not relevant to idiopathic infertility.
• Mutation: ER? (PvuII and XbaI) and ER? (AluI and RsaI) gene polymorphisms
• Population size: 403
• Population details: 403 (187 idiopathic, infertile(78 nonobstructive azoospermia, 109 severe oligozoospermia), 216 fertile men)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: ESR1, ESR2
• Other associated phenotypes: Male infertility

Polymorphisms of estrogen receptors alpha and beta in idiopathic, infertile Brazilian men: a case-control study

Bianco B, Peluso C, Gava MM, Ghirelli-Filho M, Lipay MV, Lipay MA, Christofolini DM, Barbosa CP.

Estrogen plays an important role in the human reproductive system and its action is mediated mainly by two specific receptors: α (ERα) and β (ERβ). There are polymorphic variants in both ER genes, and studies showed their association with reproductive outcomes. We aimed to determine the distribution of ERα and ERβ gene polymorphisms in idiopathic, infertile Brazilian patients in a case-control study comprising 187 idiopathic, infertile Brazilian men with nonobstructive azoospermia (NOA, n = 78) or severe oligozoospermia (SO, n = 109) and 216 fertile men. Detection of ERα (PvuII and XbaI) and ERβ (AluI and RsaI) gene polymorphisms were performed using TaqMan PCR. The results were analyzed statically, and a P-value < 0.05 was considered significant. Single-marker analysis revealed that neither PvuII nor XbaI polymorphisms of the ERα gene were associated either with NOA group (P = 0.662 and P = 0.527, respectively) or SO group (P = 0.777 and P = 1.0, respectively). Regarding ERβ polymorphisms, no statistical difference was observed between the AluI polymorphism and NOA group compared to controls (P = 1.0) or between SO group and controls (P = 0.423). We found similar results with the RsaI polymorphism. Statistical analysis did not reveal a difference between NOA (P = 0.740) and SO (P = 0.920) groups compared to controls. Combined genotypes of ERα and ERβ polymorphisms did not identify a haplotype associated with idiopathic infertility. Thus, in the Brazilian population, genetic variations in both estrogen receptors alpha (PvuII and XbaI) and beta (AluI and RsaI) were not relevant to idiopathic infertility. CI - Copyright © 2011 Wiley-Liss, Inc. FAU - Bianco, Bianca AU - Bianco B AD - Division of Human Reproduction and Genetics, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Santo André/SP, Brazil. bianca.bianco@hotmail.com FAU - Peluso, Carla AU - Peluso C FAU - Gava, Marcello Machado AU - Gava MM FAU - Ghirelli-Filho, Milton AU - Ghirelli-Filho M FAU - Lipay, Monica Vannucci Nunes AU - Lipay MV FAU - Lipay, Marco Aurélio AU - Lipay MA FAU - Christofolini, Denise Maria AU - Christofolini DM