Zulvikar Syambani Ulhaq
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. © 2020 by Turkish Ophthalmological Association Turkish Journal of Ophthalmology, published by Galenos Publishing House.
Maulana Malik Ibrahim Islamic State University of Malang, Faculty of Medicine and Health Sciences, Department of Biomedical Science, Batu, Indonesia
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