雌激素受体基因遗传多态性与眼部疾病风险的关联：一项荟萃分析。
The Association Between Genetic Polymorphisms in Estrogen Receptor Genes and the Risk of Ocular Disease: A Meta-Analysis.
机构信息
Maulana Malik Ibrahim Islamic State University of Malang, Faculty of Medicine and Health Sciences, Department of Biomedical Science, Batu, Indonesia.
出版信息
Turk J Ophthalmol. 2020 Aug 26;50(4):216-220. doi: 10.4274/tjo.galenos.2020.91298.
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.
目的
评估雌激素受体基因多态性与眼部疾病风险之间的关联。
材料与方法
对所有研究进行了荟萃分析，这些研究调查了基因多态性与眼部疾病风险之间的关联。
结果
根据纳入标准选择的研究报告了在雌激素受体α（ERα）（rs2234093、rs12154178、rs1884054、rs1801132 和 rs9340799）和雌激素受体β（ERβ）（rs1268656、rs7159462、rs1256031 和 rs4986938）基因中发现的 5 个和 4 个单核苷酸多态性（SNP）与眼部疾病之间存在显著关联。汇总结果显示，rs1256031 基因多态性与眼部疾病显著相关（比值比：0.55，95%置信区间：0.41-0.74，p<0.0001）。
结论
rs1256031 基因多态性的隐性基因型对眼部疾病具有保护作用，这支持了雌激素信号通路通过 ERβ 在眼科疾病发病机制中发挥关键作用的假说。
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