2013-11-01
Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus
Publication
Publication
Human Molecular Genetics , Volume 22 - Issue 22 p. 4653- 4660
To discover quantitative trait loci for intraocular pressure, amajor risk factor for glaucoma and the only modifiable one,weperformed agenome-wide association studyonadiscoverycohort of2175individualsfromSydney, 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, Pcombined = 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.
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| doi.org/10.1093/hmg/ddt293, hdl.handle.net/1765/56271 | |
| Human Molecular Genetics | |
| Organisation | Department of Ophthalmology |
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Strange, A., Bellenguez, C., Sim, X., Luben, R., Hysi, P., Ramdas, W., … Viswanathan, A. (2013). Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus. Human Molecular Genetics, 22(22), 4653–4660. doi:10.1093/hmg/ddt293 |
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