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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.

Original publication

DOI

10.1093/hmg/ddt293

Type

Journal article

Journal

Human molecular genetics

Publication Date

11/2013

Volume

22

Pages

4653 - 4660

Keywords

Blue Mountains Eye Study (BMES), Wellcome Trust Case Control Consortium 2 (WTCCC2), Chromosomes, Human, Pair 7, Humans, Glaucoma, Open-Angle, Genetic Predisposition to Disease, Receptors, Glucocorticoid, Autoantigens, Risk Factors, Cohort Studies, Prospective Studies, Intraocular Pressure, Polymorphism, Single Nucleotide, Alleles, Quantitative Trait Loci, Adult, Aged, Middle Aged, Australia, Female, Male, Genetic Variation, Genome-Wide Association Study