Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus.
| Title | Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus. |
| Publication Type | Journal Article |
| Year of Publication | 2013 |
| Corporate Authors | Blue Mountains Eye Study(BMES), & Wellcome Trust Case Control Consortium 2(WTCCC2) |
| Journal | Hum Mol Genet |
| Volume | 22 |
| Issue | 22 |
| Pagination | 4653-60 |
| Date Published | 2013 Nov 15 |
| ISSN | 1460-2083 |
| 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 |
| 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. |
| DOI | 10.1093/hmg/ddt293 |
| Alternate Journal | Hum Mol Genet |
| PubMed ID | 23836780 |
| PubMed Central ID | PMC3904806 |
| Grant List | 090532/Z/09/Z / / Wellcome Trust / United Kingdom G0400126 / / Medical Research Council / United Kingdom 095552 / / Wellcome Trust / United Kingdom 075491/Z/04/B / / Wellcome Trust / United Kingdom 095552/Z/11/Z / / Wellcome Trust / United Kingdom 090532 / / Wellcome Trust / United Kingdom 085475/B/08/Z / / Wellcome Trust / United Kingdom SRF/01/010 / / Department of Health / United Kingdom 085475/Z/08/Z / / Wellcome Trust / United Kingdom |
