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

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