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 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 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 (ERα) (rs2234093, rs12154178, rs1884054, rs1801132, and rs9340799) and (ERβ) (rs1268656, rs7159462, rs1256031, and rs4986938) genes, respectively. The pooled result showed a significant association between 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 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.