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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

Hum Mol Genet

Publication Date

15/11/2013

Volume

22

Pages

4653 - 4660

Keywords

Adult, Aged, Alleles, Australia, Autoantigens, Chromosomes, Human, Pair 7, Cohort Studies, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Glaucoma, Open-Angle, Humans, Intraocular Pressure, Male, Middle Aged, Polymorphism, Single Nucleotide, Prospective Studies, Quantitative Trait Loci, Receptors, Glucocorticoid, Risk Factors