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The Association Between Genetic Polymorphisms in Estrogen Receptor Genes and the Risk of Ocular Disease: A Meta-Analysis

ABSTRACT: Objectives:To evaluate the association between estrogen receptor (ER) genes polymorphisms and the risk of ocular disease. Materials and Methods:A meta-analysis was performed of all available studies that investigated the association between ER gene polymorphisms and the risk of ocular disease. Results:Studies that were selected based on inclusion criteria reported 5 and 4 single-nucleotide polymorphisms (SNPs) identified in the ESR1 (ER?) (rs2234093, rs12154178, rs1884054, rs1801132, and rs9340799) and ESR2 (ER?) (rs1268656, rs7159462, rs1256031, and rs4986938) genes, respectively. The pooled result showed a significant association between ESR2 rs1256031 gene polymorphism and ocular disease (odds ratio: 0.55, 95% confidence interval: 0.41-0.74, p<0.0001). Conclusion:The recessive genotype of ESR2 rs1256031 gene polymorphism had a protective effect against ocular disease, which supports the hypothesis that the estrogen-signaling pathway through ER? plays a pivotal role in the pathogenesis of ophthalmic disorders.

SUBMITTER: Ulhaq ZS

PROVIDER: S-EPMC7469901 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature

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The Association Between Genetic Polymorphisms in Estrogen Receptor Genes and the Risk of Ocular Disease: A Meta-Analysis

Ulhaq Zulvikar Syambani ZS

Turkish journal of ophthalmology 20200801 4

<h4>Objectives</h4>To evaluate the association between estrogen receptor <i>(ER)</i> genes polymorphisms and the risk of ocular disease.<h4>Materials and methods</h4>A meta-analysis was performed of all available studies that investigated the association between <i>ER</i> gene polymorphisms and the risk of ocular disease.<h4>Results</h4>Studies that were selected based on inclusion criteria reported 5 and 4 single-nucleotide polymorphisms (SNPs) identified in the <i>ESR1</i> (ERα) (rs2234093, rs ...[more]

PMID: 32854465

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Project description: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.

Dataset Information

The Association Between Genetic Polymorphisms in Estrogen Receptor Genes and the Risk of Ocular Disease: A Meta-Analysis

Publications

The Association Between Genetic Polymorphisms in Estrogen Receptor Genes and the Risk of Ocular Disease: A Meta-Analysis

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