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Publication Detail
Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    Strange A, Bellenguez C, Sim X, Luben R, Hysi PG, Ramdas WD, van Koolwijk LME, 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 JAZ, Markus HS, Mathew CG, Palmer CNA, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Wood NW, Barroso I, Leena Peltonen LP, Healey P, McGuffin P, Topouzis F, Klaver CCW, van Duijn CM, Mackey DA, Young TL, Hammond CJ, Khaw KT, Wareham N, Wang JJ, Wong TY, Foster PJ, Mitchell P, Spencer CCA, Donnelly P, Viswanathan AC
  • Publication date:
    01/11/2013
  • Pagination:
    4653, 4660
  • Journal:
    Human Molecular Genetics
  • Volume:
    22
  • Issue:
    22
  • Status:
    Published
  • Print ISSN:
    0964-6906
Abstract
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, 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. © The Author 2013. Published by Oxford University Press. All rights reserved.
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