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: Fábia Lima Vilarino, Bianca Bianco, Tatiana Goberstein Lerner, Juliana Souto Teles, Fernanda Abani Mafra, Denise Maria Christofolini, Caio Parente Barbosa
• Journal: Human immunology (Hum Immunol) Vol. 72 Issue 4 Pg. 359-63 (Apr 2011) ISSN: 1879-1166 [Electronic] United States
• PMID: 21277927 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2011 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

Chemical References

• Receptors, Calcitriol

Topics

• Adult
• Brazil
• Endometriosis (genetics)
• Female
• Gene Frequency
• Genetic Predisposition to Disease
• Genotype
• Humans
• Linkage Disequilibrium (genetics)
• Polymorphism, Genetic (genetics)
• Receptors, Calcitriol (genetics)