title: Analysis of vitamin D receptor gene polymorphisms in women with and without endometriosis.
abstract: An aberrant immunologic mechanism has been suggested to be involved in the pathogenesis of endometriosis. Genetic alterations in the vitamin D receptor gene (VDR) may lead to important defects in gene activation that principally affect immune function. We have hypothesized a possible relationship between endometriosis and/or infertility and the VDR polymorphisms (ApaI, TaqI, FokI, and BmsI). The study was a case-control study including 132 women with endometriosis-related infertility, 62 women with idiopathic infertility, and 133 controls. VDR polymorphisms were studied by restriction fragment length polymorphism. We found relatively similar VDR polymorphism genotype frequencies in cases and controls. When patients with minimal/mild and moderate/severe endometriosis were studied separately, no difference was found. When we compared infertile groups with and without endometriosis there was no statistically significant difference. The data suggest that VDR polymorphisms did not play an important role in the pathogenesis of endometriosis and/or infertility in the Brazilian women studied.
authors.affiliation: Division of Pathological Gynecology and Human Reproduction, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Santo André/São Paulo, Brazil.
authors.forename: Fábia Lima
authors.initials: FL
authors.lastname: Vilarino
authors.forename: Bianca
authors.initials: B
authors.lastname: Bianco
authors.forename: Tatiana Goberstein
authors.initials: TG
authors.lastname: Lerner
authors.forename: Juliana Souto
authors.initials: JS
authors.lastname: Teles
authors.forename: Fernanda Abani
authors.initials: FA
authors.lastname: Mafra
authors.forename: Denise Maria
authors.initials: DM
authors.lastname: Christofolini
authors.forename: Caio Parente
authors.initials: CP
authors.lastname: Barbosa
mesh_terms: D000328:Adult; D001938:Brazil; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D018167:Receptors, Calcitriol / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol