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Disease Markers
Volume 35 (2013), Issue 6, Pages 907–913
http://dx.doi.org/10.1155/2013/796290
Research Article

ESR1 rs9340799 Is Associated with Endometriosis-Related Infertility and In Vitro Fertilization Failure

1Department of Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Avenida Bento Gonçalves 9500, 43323 M, 91501-970 Porto Alegre, RS, Brazil
2Genomic Medicine Laboratory, Experimental Research Center, Hospital de Clinicas de Porto Alegre, Avenida Ramiro Barcelos 2350, 90035-903 Porto Alegre, RS, Brazil
3Department of Obstetrics and Gynecology, Federal University of Rio Grande do Sul, Avenida Ramiro Barcelos 2350, 90035-903 Porto Alegre, RS, Brazil
4Medical Genetics Service and National Institute of Science and Technology in Population Medical Genetics (INAGEMP), Hospital de Clinicas de Porto Alegre, Avenida Ramiro Barcelos 2350, 90035-903 Porto Alegre, RS, Brazil

Received 30 September 2013; Revised 30 November 2013; Accepted 5 December 2013

Academic Editor: Irene Rebelo

Copyright © 2013 Diego Davila Paskulin et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Estrogen receptor alpha has a central role in human fertility by regulating estrogen action in all human reproductive tissues. Leukemia inhibitory factor (LIF) expression, a cytokine critical for blastocyst implantation, is mediated by estrogen signaling, so we hypothesized that ESR1 gene polymorphisms might be candidate risk markers for endometriosis-related infertility and in vitro fertilization (IVF) failure. We included 98 infertile women with endometriosis, 115 infertile women with at least one IVF failure and also 134 fertile women as controls. TaqMan SNP assays were used for genotyping LIF (rs929271), MDM2 (rs2279744), MDM4 (rs1563828), USP7 (rs1529916), and ESR1 (rs9340799 and rs2234693) polymorphisms. The SNP ESR1 rs9340799 was associated with endometriosis-related infertility ( ) and also with IVF failure ( ). After controlling for age, infertile women with ESR1 rs9340799 GG genotype presented 4-fold increased risk of endometriosis (OR 4.67, 95% CI 1.84–11.83, ) and 3-fold increased risk of IVF failure (OR 3.33, 95% CI 1.38–8.03, ). Our results demonstrate an association between ESR1 rs9340799 polymorphism and infertile women with endometriosis and also with women who were submitted to IVF procedures and had no blastocyst implantation.