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Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

Journal article published in 2013 by Amy Strange, Xueling Sim, Robert Luben, Pirro G. Hysi, Wishal D. Ramdas, Leonieke M. E. van Koolwijk, Céline Bellenguez, Matti Pirinen, Zhan Su, Richard Pearson, Damjan Vukcevic, Cordelia Langford, Colin Freeman, L. P. Leena Peltonen, Simon C. Potter and other authors.
This paper is available in a repository.
This paper is available in a repository.

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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, 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. © The Author 2013. Published by Oxford University Press. All rights reserved.