Abstract
BackgroundMany epidemiological studies have suggested an association between estrogen receptor-beta (ER-β) polymorphisms with endometriosis risk. However, the results of these studies have been inconsistent. In the present study, we performed a meta-analysis to clarify the associations between the ER-β rs4986938 and rs1256049 polymorphisms and endometriosis risk.MethodsEligible publications were retrieved from the PubMed, ISI Web of Science, and several Chinese language databases. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using a random or fixed effect model.ResultsA total of eight studies (1100 cases/1485 controls) for the rs4986938 polymorphism and four studies (353 cases/450 controls) for the rs1256049 polymorphism were included in this meta-analysis. Regarding the rs4986938 polymorphism, no obvious associations were found for all genetic models when all studies were pooled into the meta-analysis. In the subgroup analyses by ethnicity, study sample size, endometriosis-associated infertility, and stage of endometriosis, a significantly increased risk was observed among mixed populations (dominant model, OR = 2.03, 95% CI = 1.56–2.64) and among cases with endometriosis-associated infertility (dominant model, OR = 1.83, 95% CI = 1.26–2.67). Regarding the rs1256049 polymorphism, no obvious associations were found for all genetic models in the overall population. Subgroup analyses by ethnicity and study sample size revealed that only one study of a mixed population with small sample size showed an increased risk of endometriosis. No publication bias was found in the present study.ConclusionsThe results of this meta-analysis suggest that the ER-β rs4986938 and rs1256049 polymorphisms may not be associated with endometriosis risk, while the observed increased risk of endometriosis-associated infertility may be due to bias by the inclusion of small-scale studies.Virtual SlidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/13000_2014_184
Highlights
Many epidemiological studies have suggested an association between estrogen receptor-beta (ER-β) polymorphisms with endometriosis risk
The results showed no significant association of the rs4986938 polymorphism with stage of endometriosis
Some of the results were conflicting, even in the same population, and a systematic review and metaanalysis of associations between ER-β gene polymorphisms and endometriosis risk will be of great value
Summary
Many epidemiological studies have suggested an association between estrogen receptor-beta (ER-β) polymorphisms with endometriosis risk. We performed a meta-analysis to clarify the associations between the ER-β rs4986938 and rs1256049 polymorphisms and endometriosis risk. Previous studies have demonstrated that allelic variants of genes encoding for ER may be responsible for their action as modulators of the estrogenic response, and the polymorphisms of these genes have been postulated as candidate risk markers for a number of estrogen-dependent disorders, including endometriosis [8,9]. Two single nucleotide polymorphisms (SNPs) in the ER-β gene, rs4986938 and rs1256049, have been most frequently studied The former SNP located in exon 8 gives rise to a G-A exchange at nucleotide 1730 and introduces a recognition site for AluI, whereas the latter results in a G-A exchange at nucleotide 1082 in exon 5 and creates a recognition site for RsaI. Many meta-analyses have reported associations of these two SNPs in the ER-β gene with several diseases, including prostate cancer [10], male infertility [11], Parkinson’s disease [12], osteoarthritis [13], and breast cancer [14]
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