ESR1rs9340799 Is Associated with Endometriosis-Related Infertility andIn VitroFertilization Failure

Diego Davila Paskulin, Diego D’Ávila Paskulin, João Sabino Cunha-Filho, João Sabino Cunha‐Filho, Livia Davila Paskulin, Livia Paskulin, Carlos Augusto Bastos de Souza, Carlos Augusto Bastos Souza, Patricia Ashton-Prolla, Patrícia Ashton‐Prolla
Disease markers · 2013 · vol. 35(6) , pp. 907–913 · doi:10.1155/2013/796290 · PMID:24427778 · W2012358713
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The ESR1 rs9340799 polymorphism was associated with increased risk for endometriosis-related infertility and in vitro fertilization failure in infertile women.

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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 (P < 0.001) and also with IVF failure (P = 0.018). 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, P = 0.001) and 3-fold increased risk of IVF failure (OR 3.33, 95% CI 1.38-8.03, P = 0.007). 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.

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Condition tags

mesh:D004715endometriosisinfertility

MeSH descriptors

Endometriosis Estrogen Receptor alpha Infertility, Female Polymorphism, Single Nucleotide Adult Case-Control Studies Cell Cycle Proteins Endometriosis Endometriosis Estrogen Receptor alpha Female Fertilization in Vitro Gene Frequency Genetic Association Studies Genetic Predisposition to Disease Humans Infertility, Female Infertility, Female Leukemia Inhibitory Factor Leukemia Inhibitory Factor

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