The EPIC-Norfolk Study
Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus.
Human Molecular Genetics 2013 ; 22: 4653-60.
Blue Mountains Eye Study (BMES), and Wellcome Trust Case Control Consortium 2 (WTCCC2)
DOI : 10.1093/hmg/ddt293
PubMed ID : 23836780
PMCID : PMC3904806
URL : https://academic.oup.com/hmg/article/22/22/4653/580762
Abstract
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.