Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus.
Journal Article (Journal Article)
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.
Full Text
Duke Authors
Published Date
- November 15, 2013
Published In
Volume / Issue
- 22 / 22
Start / End Page
- 4653 - 4660
PubMed ID
- 23836780
Pubmed Central ID
- PMC3904806
Electronic International Standard Serial Number (EISSN)
- 1460-2083
Digital Object Identifier (DOI)
- 10.1093/hmg/ddt293
Language
- eng
Conference Location
- England