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 (ERα) (rs2234093, rs12154178, rs1884054, rs1801132, and rs9340799) and ESR2 (ERβ) (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 ERβ plays a pivotal role in the pathogenesis of ophthalmic disorders.

The prevalence of anxiety symptoms and disorders among ophthalmic disease patients

“…A funnel plot and Begg's test were used to investigate the publication bias if the pooled effect size consisted of 10 or more studies. [17][18][19][20][21][22] Metaanalysis was performed utilizing Open Meta-Analyst software package. 23 The value of 0.05 was indicative of statistical significance.…”

Association between GPER gene polymorphisms and GPER expression levels with cancer predisposition and progression

“…Meta-analysis for each gene polymorphism was performed for two or more studies, as previously described [ 3 , 4 , 5 , 6 , 22 , 23 , 24 , 25 ]. Genotypic frequency of GPER gene polymorphism was tested for deviation from the Hardy–Weinberg equilibrium (HWE) in the control subjects if HWE was not reported.…”

“…Genotypic frequency of GPER gene polymorphism was tested for deviation from the Hardy–Weinberg equilibrium (HWE) in the control subjects if HWE was not reported. The genetic association was examined using different genetic models, including allelic (a vs. A), recessive (aa vs. Aa + AA), dominant (aa + Aa vs. AA), over dominant (Aa vs. aa + AA), homozygous (aa vs. AA), and heterozygous (Aa vs. AA) models [ 5 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 ]. The associations between GPER gene polymorphisms or GPER expression levels with cancer predisposition and progression were calculated by the pooled odds ratio (OR) and 95% confidence interval (CI).…”

“…Estradiol (E 2 ) is a major form of estrogen and displays pleiotropic steroid function that play regulatory roles in many physiological processes [ 1 , 2 ]. Biosynthesis of E 2 is determined by the conversion of testosterone by a rate-limiting enzyme, aromatase (CYP19A1) [ 1 , 2 , 3 , 4 , 5 , 6 ]. E 2 -mediated effects are modulated through both genomic and non-genomic pathways by the nuclear and membrane estrogen receptor (ER), respectively [ 2 ].…”

Comment on the assessment of “Association of interleukin-6 gene polymorphisms and glaucoma: systematic review and meta-analysis”

“…Because meta-analysis is the statistical combination of results from two or more separate studies, 2-8 the findings and conclusion stating that “IL-6 rs1524107 (dominant (C/C+C/T vs T/T) and recessive (C/C vs C/T+T/T) models) are associated with glaucoma risk” are inaccurate, as these outcomes are driven by a single study. Moreover, a meta-analysis of the association between IL-6 rs1524107 and glaucoma should not be performed, rather than directly referring to a previously reported study.…”