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Abstract #54413 Published in IGR 15-3
Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus
Blue Mountains Eye Study (BMES); Wellcome Trust Case Control Consortium 2 (WTCCC2); Strange A; Bellenguez C; Sim X; Luben R; Hysi PG; Ramdas WD; van Koolwijk LM; Freeman C; Pirinen M; Su Z; Band G; Pearson R; Vukcevic D; Langford C; Deloukas P; Hunt S; Gray E; Dronov S; Potter SC; Tashakkori-Ghanbaria A; Edkins S; Bumpstead SJ; Blackwell JM; Bramon E; Brown MA; Casas JP; Corvin A; Duncanson A; Jankowski JA; Markus HS; Mathew CG; Palmer CN; Plomin R; Rautanen A; Sawcer SJ; Trembath RC; Wood NW; Barroso I; Peltonen L; Healey P; McGuffin P; Topouzis F; Klaver CC; Van Duijn CM; Mackey DA; Young TL; Hammond CJ; Khaw KT; Wareham N; Wang JJ; Wong TY; Foster PJ; Mitchell P; Spencer CC; Donnelly P; Viswanathan ACHuman Molecular Genetics 2013; 22: 4653-4660
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 article
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
1.3 Pathogenesis (Part of: 1 General aspects)
