Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.
Department of Ophthalmology, Seoul National University Hospital, Seoul, Korea.
Br J Ophthalmol. 2021 Sep;105(9):1307-1312. doi: 10.1136/bjophthalmol-2020-316089. Epub 2020 Sep 15.
To validate six previously known primary open-angle glaucoma (POAG)-related loci in a Korean population.
Representative POAG-related single-nucleotide polymorphisms (SNPs) from six loci ( (()tonal BHLH transcription factor 7 () () were selected and genotyped from discovery (POAG=309, heathy=5400) and replication cohorts (POAG=310, healthy=5612 and POAG=221, healthy=6244, respectively). Data were analysed using logistic regression to calculate the OR for POAG risk associated with SNP.
From the discovery cohort, rs1900004 in (OR=1.29, p=0.0024); rs1063192 (OR=0.69, p=0.0006), rs2157719 (OR=0.63, p=0.0007) and rs7865618 (OR=0.63, p=0.0006) in , and rs10483727 in (OR=0.68, p=7.9E-05) were nominally associated with the risk of POAG. The replication cohorts revealed nominal associations with rs2157719 (OR=0.72, p=0.0135), rs1063192 (OR=0.63, p=0.0007) and rs7865618 (OR=0.52, p=0.0004) in . A mega-analysis from the entire Korean population revealed significance with rs1063192 (OR=0.77, p=6.0E-05), rs2157719 (OR=0.63, p=0.0007) and rs7865618 (OR=0.58, p=1.9E-06) in and with rs10483727 in (OR=0.79, p=9.4E-05), with the same direction of effect between the discovery association and the replication sample.
Variants near and may require further investigation to obtain more genetic information on POAG development in a Korean population.
在韩国人群中验证六个先前已知的原发性开角型青光眼（POAG）相关基因座。
从六个基因座（ （()tonal BHLH 转录因子 7 () () 中选择有代表性的 POAG 相关单核苷酸多态性（SNP），并对发现队列（POAG=309，健康=5400）和复制队列（POAG=310，健康=5612 和 POAG=221，健康=6244）进行基因分型。使用逻辑回归分析数据，计算 SNP 与 POAG 风险相关的 OR。
从发现队列中，rs1900004 位于 （OR=1.29，p=0.0024）；rs1063192（OR=0.69，p=0.0006），rs2157719（OR=0.63，p=0.0007）和 rs7865618（OR=0.63，p=0.0006）位于 ，以及 rs10483727 位于 （OR=0.68，p=7.9E-05）与 POAG 风险呈名义相关。复制队列显示 rs2157719（OR=0.72，p=0.0135）、rs1063192（OR=0.63，p=0.0007）和 rs7865618（OR=0.52，p=0.0004）与 之间存在名义关联。整个韩国人群的 mega 分析显示 rs1063192（OR=0.77，p=6.0E-05）、rs2157719（OR=0.63，p=0.0007）和 rs7865618（OR=0.58，p=1.9E-06）与 以及 rs10483727 位于 （OR=0.79，p=9.4E-05）与发现关联和复制样本之间的效应方向相同。
附近的变体和 可能需要进一步研究，以在韩国人群中获得更多关于 POAG 发展的遗传信息。
