Authors:
Strange A, Bellenguez C, Sim X, Luben R, Hysi PG, Ramdas WD, … Blackwell JM, et al.
Authors notes:
Human Molecular Genetics. 2013;22(22):4653-4660
Keywords:
Intraocular pressure, glaucoma, genome-wide association study, SNP, vesicle tracking
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.
A copy of the G allele at this SNP is associated with an increase in mean IOP of 0.45 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.