. 2020; 50(4): 216-220

The association of genetic polymorphisms in estrogen receptor genes with the ocular disease: A meta-analysis

Zulvikar Syambani Ulhaq
Department of Biomedical Science, Faculty of Medicine and Health Sciences, Maulana Malik Ibrahim Islamic State University of Malang, Batu, Indonesia.

Objective: To evaluate the association between estrogen receptor (ER) genes polymorphisms and the risk of ocular disease.
Methods: A meta-analysis was performed from all available studies that investigated the association between ER genes polymorphisms and the risk of ocular disease.
Results: Studies that were selected based on inclusion criteria reported five and four 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 with the ocular disease (OR = 0.55, 95% CI 0.41-0.74, P<0.0001).
Conclusion: Recessive genotype of ESR2 rs1256031 gene polymorphism had a protective effect against the ocular disease, which supports the hypothesis that the estrogen-signaling pathway through ERβ plays a pivotal role in the pathogenesis of ophthalmic disorders.
Keywords: Estrogen receptor, gene, polymorphism, ocular disease.

Keywords: Estrogen receptor, gene, polymorphism, ocular disease.


Zulvikar Syambani Ulhaq. The association of genetic polymorphisms in estrogen receptor genes with the ocular disease: A meta-analysis. . 2020; 50(4): 216-220

Sorumlu Yazar: Zulvikar Syambani Ulhaq, Indonesia


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