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Title: Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus
Authors: Strange, A.
Bellenguez, C.
Sim, X. 
Luben, R.
Hysi, P.G.
Ramdas, W.D.
van Koolwijk, L.M.
Freeman, C.
Pirinen, M.
Su, Z.
Band, G.
Pearson, R.
Vukcevic, D.
Langford, C.
Deloukas, P.
Hunt, S.
Gray, E.
Dronov, S.
Potter, S.C.
Tashakkori-Ghanbaria, A.
Edkins, S.
Bumpstead, S.J.
Blackwell, J.M.
Bramon, E.
Brown, M.A.
Casas, J.P.
Corvin, A.
Duncanson, A.
Jankowski, J.A.
Markus, H.S.
Mathew, C.G.
Palmer, C.N.
Plomin, R.
Rautanen, A.
Sawcer, S.J.
Trembath, R.C.
Wood, N.W.
Barroso, I.
Leena Peltonen, L.P.
Healey, P.
McGuffin, P.
Topouzis, F.
Klaver, C.C.
van Duijn, C.M.
Mackey, D.A.
Young, T.L.
Hammond, C.J.
Khaw, K.-T.
Wareham, N.
Wang, J.J.
Wong, T.Y. 
Foster, P.J.
Mitchell, P.
Spencer, C.C.
Donnelly, P.
Viswanathan, A.C.
Issue Date: Nov-2013
Citation: Strange, A., Bellenguez, C., Sim, X., Luben, R., Hysi, P.G., Ramdas, W.D., van Koolwijk, L.M., Freeman, C., Pirinen, M., Su, Z., Band, G., Pearson, R., Vukcevic, D., Langford, C., Deloukas, P., Hunt, S., Gray, E., Dronov, S., Potter, S.C., Tashakkori-Ghanbaria, A., Edkins, S., Bumpstead, S.J., Blackwell, J.M., Bramon, E., Brown, M.A., Casas, J.P., Corvin, A., Duncanson, A., Jankowski, J.A., Markus, H.S., Mathew, C.G., Palmer, C.N., Plomin, R., Rautanen, A., Sawcer, S.J., Trembath, R.C., Wood, N.W., Barroso, I., Leena Peltonen, L.P., Healey, P., McGuffin, P., Topouzis, F., Klaver, C.C., van Duijn, C.M., Mackey, D.A., Young, T.L., Hammond, C.J., Khaw, K.-T., Wareham, N., Wang, J.J., Wong, T.Y., Foster, P.J., Mitchell, P., Spencer, C.C., Donnelly, P., Viswanathan, A.C. (2013-11). Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus. Human Molecular Genetics 22 (22) : 4653-4660. ScholarBank@NUS Repository.
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.
Source Title: Human Molecular Genetics
ISSN: 09646906
DOI: 10.1093/hmg/ddt293
Appears in Collections:Staff Publications

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