Genetic variants in the nucleotide excision repair genes are associated with the risk of developing endometriosis

Te-Chun Shen, Te‐Chun Shen, Tsai CW, Chia-Wen Tsai, Chang WS, Wen-Shin Chang, Wang YC, YUN-CHI WANG, HUAI-MEI HSU, Hsu HM, Hsin-Ting Li, Li HT, Gu J, Jian Gu, Bau DT, DA-Tian Bau, Da‐Tian Bau
Biology of reproduction · 2019 · vol. 101(5) , pp. 928–937 · doi:10.1093/biolre/ioz150 · PMID:31373346 · W2979446195
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Single nucleotide polymorphisms in ERCC1, ERCC2, and ERCC6 nucleotide excision repair genes were associated with an increased risk of developing endometriosis in women.

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Abstract

Endometriosis is a major health issue among women of reproductive age. However, its etiology has not yet been completely understood. We investigated 10 single nucleotide polymorphisms from six novel nucleotide excision repair genes and the susceptibility to endometriosis. A total of 153 patients with endometriosis were recruited during 2000-2010 from central Taiwan. Pathological confirmation was necessary for all patients, and exclusion criteria included the presence of leiomyoma, adenomyosis, or cancer of the uterine, cervix, or ovary and a prescription of hormone therapy. Furthermore, a total of 636 age-matched individuals without endometriosis were recruited during the same time period from central Taiwan. The polymerase chain reaction coupled with restriction fragment length polymorphism methodology was applied for genotyping. The multivariate logistic regression analysis showed that subjects carrying the ERCC1 rs11615 TT (OR = 2.04, 95% CI = 1.36-3.41), ERCC2 rs1799793 AA (OR = 1.86, 95% CI = 1.14-3.11), and ERCC6 rs2228528 AA genotypes (OR = 1.79, 95% CI = 1.13-2.83) exhibited significantly increased risks of developing endometriosis compared with their counterparts carrying the wild-type genotypes. This study suggests that certain single nucleotide polymorphisms of nucleotide excision repair genes excision repair cross-complementation group 1 (ERCC1, ERCC2, and ERCC6) predispose women to the development of endometriosis.

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Condition tags

endometriosisadenomyosis

MeSH descriptors

DNA Repair Endometriosis Genetic Predisposition to Disease Genetic Predisposition to Disease Adult Adult Case-Control Studies Case-Control Studies DNA Repair DNA Repair Endometriosis Endometriosis Female Female Gene Expression Regulation Gene Expression Regulation Genotype Genotype Humans Humans

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