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Please use this identifier to cite or link to this item: https://doi.org/10.1093/hmg/ddt293
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dc.titleGenome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus
dc.contributor.authorStrange, A.
dc.contributor.authorBellenguez, C.
dc.contributor.authorSim, X.
dc.contributor.authorLuben, R.
dc.contributor.authorHysi, P.G.
dc.contributor.authorRamdas, W.D.
dc.contributor.authorvan Koolwijk, L.M.
dc.contributor.authorFreeman, C.
dc.contributor.authorPirinen, M.
dc.contributor.authorSu, Z.
dc.contributor.authorBand, G.
dc.contributor.authorPearson, R.
dc.contributor.authorVukcevic, D.
dc.contributor.authorLangford, C.
dc.contributor.authorDeloukas, P.
dc.contributor.authorHunt, S.
dc.contributor.authorGray, E.
dc.contributor.authorDronov, S.
dc.contributor.authorPotter, S.C.
dc.contributor.authorTashakkori-Ghanbaria, A.
dc.contributor.authorEdkins, S.
dc.contributor.authorBumpstead, S.J.
dc.contributor.authorBlackwell, J.M.
dc.contributor.authorBramon, E.
dc.contributor.authorBrown, M.A.
dc.contributor.authorCasas, J.P.
dc.contributor.authorCorvin, A.
dc.contributor.authorDuncanson, A.
dc.contributor.authorJankowski, J.A.
dc.contributor.authorMarkus, H.S.
dc.contributor.authorMathew, C.G.
dc.contributor.authorPalmer, C.N.
dc.contributor.authorPlomin, R.
dc.contributor.authorRautanen, A.
dc.contributor.authorSawcer, S.J.
dc.contributor.authorTrembath, R.C.
dc.contributor.authorWood, N.W.
dc.contributor.authorBarroso, I.
dc.contributor.authorLeena Peltonen, L.P.
dc.contributor.authorHealey, P.
dc.contributor.authorMcGuffin, P.
dc.contributor.authorTopouzis, F.
dc.contributor.authorKlaver, C.C.
dc.contributor.authorvan Duijn, C.M.
dc.contributor.authorMackey, D.A.
dc.contributor.authorYoung, T.L.
dc.contributor.authorHammond, C.J.
dc.contributor.authorKhaw, K.-T.
dc.contributor.authorWareham, N.
dc.contributor.authorWang, J.J.
dc.contributor.authorWong, T.Y.
dc.contributor.authorFoster, P.J.
dc.contributor.authorMitchell, P.
dc.contributor.authorSpencer, C.C.
dc.contributor.authorDonnelly, P.
dc.contributor.authorViswanathan, A.C.
dc.date.accessioned2014-11-26T07:44:59Z
dc.date.available2014-11-26T07:44:59Z
dc.date.issued2013-11
dc.identifier.citationStrange, 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. https://doi.org/10.1093/hmg/ddt293
dc.identifier.issn09646906
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/109365
dc.description.abstractTo 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.
dc.sourceScopus
dc.typeArticle
dc.contributor.departmentLIFE SCIENCES INSTITUTE
dc.contributor.departmentOPHTHALMOLOGY
dc.description.doi10.1093/hmg/ddt293
dc.description.sourcetitleHuman Molecular Genetics
dc.description.volume22
dc.description.issue22
dc.description.page4653-4660
dc.description.codenHMGEE
dc.identifier.isiut000326675300017
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