Hum Mol Genet. 2013 Nov 15;22(22):4653-60. doi: 10.1093/hmg/ddt293. Epub 2013 Jul 7.
To discover quantitative trait loci for intraocular pressure, a major risk factor for glaucoma and the only modifiable one, we performed a genome-wide association study on a discovery cohort of 2175 individuals from Sydney, Australia. We found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1. The findings in this region were confirmed through two UK replication cohorts totalling 4866 individuals (rs59072263, P(combined) = 1.10 × 10(-8)). A copy of the G allele at this SNP is associated with an increase in mean IOP of 0.45 mmHg (95%CI = 0.30-0.61 mmHg). These results lend support to the implication of vesicle trafficking and glucocorticoid inducibility pathways in the determination of intraocular pressure and in the pathogenesis of primary open-angle glaucoma.
为了发现眼压（青光眼的主要风险因素，也是唯一可调节的因素）的数量性状基因座，我们对来自澳大利亚悉尼的 2175 名个体的发现队列进行了全基因组关联研究。我们在 GLCCI1 和 ICA1 附近的 7p21 发现了一个与眼压有关的新的常见变异。该区域的发现通过两个英国复制队列得到了证实，总共有 4866 名个体（rs59072263，P(联合) = 1.10 × 10(-8)）。这个 SNP 的 G 等位基因的一个拷贝与平均眼压升高 0.45mmHg（95%CI=0.30-0.61mmHg）相关。这些结果支持了囊泡转运和糖皮质激素诱导途径在眼压确定和原发性开角型青光眼发病机制中的作用。
