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https://doi.org/10.1093/hmg/ddt293
| 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. https://doi.org/10.1093/hmg/ddt293 | 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 | URI: | http://scholarbank.nus.edu.sg/handle/10635/109365 | ISSN: | 09646906 | DOI: | 10.1093/hmg/ddt293 |
| Appears in Collections: | Staff Publications |
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