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https://doi.org/10.1038/ng.2506
| Title: | Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus | Authors: | Lu, Y. Vitart, V. Burdon, K.P. Khor, C.C. Bykhovskaya, Y. Mirshahi, A. Hewitt, A.W. Koehn, D. Hysi, P.G. Ramdas, W.D. Zeller, T. Vithana, E.N. Cornes, B.K. Tay, W.-T. Tai, E.S. Cheng, C.-Y. Liu, J. Foo, J.-N. Saw, S.M. Thorleifsson, G. Stefansson, K. Dimasi, D.P. Mills, R.A. Mountain, J. Ang, W. Hoehn, R. Verhoeven, V.J.M. Grus, F. Wolfs, R. Castagne, R. Lackner, K.J. Springelkamp, H. Yang, J. Jonasson, F. Leung, D.Y.L. Chen, L.J. Tham, C.C.Y. Rudan, I. Vatavuk, Z. Hayward, C. Gibson, J. Cree, A.J. MacLeod, A. Ennis, S. Polasek, O. Campbell, H. Wilson, J.F. Viswanathan, A.C. Fleck, B. Li, X. Siscovick, D. Taylor, K.D. Rotter, J.I. Yazar, S. Ulmer, M. Li, J. Yaspan, B.L. Ozel, A.B. Richards, J.E. Moroi, S.E. Haines, J.L. Kang, J.H. Pasquale, L.R. Allingham, R.R. Ashley-Koch, A. Mitchell, P. Wang, J.J. Wright, A.F. Pennell, C. Spector, T.D. Young, T.L. Klaver, C.C.W. Martin, N.G. Montgomery, G.W. Anderson, M.G. Aung, T. Willoughby, C.E. Wiggs, J.L. Pang, C.P. Thorsteinsdottir, U. Lotery, A.J. Hammond, C.J. Van Duijn, C.M. Hauser, M.A. Rabinowitz, Y.S. Pfeiffer, N. MacKey, D.A. Craig, J.E. MacGregor, S. Wong, T.Y. |
Issue Date: | Feb-2013 | Citation: | Lu, Y., Vitart, V., Burdon, K.P., Khor, C.C., Bykhovskaya, Y., Mirshahi, A., Hewitt, A.W., Koehn, D., Hysi, P.G., Ramdas, W.D., Zeller, T., Vithana, E.N., Cornes, B.K., Tay, W.-T., Tai, E.S., Cheng, C.-Y., Liu, J., Foo, J.-N., Saw, S.M., Thorleifsson, G., Stefansson, K., Dimasi, D.P., Mills, R.A., Mountain, J., Ang, W., Hoehn, R., Verhoeven, V.J.M., Grus, F., Wolfs, R., Castagne, R., Lackner, K.J., Springelkamp, H., Yang, J., Jonasson, F., Leung, D.Y.L., Chen, L.J., Tham, C.C.Y., Rudan, I., Vatavuk, Z., Hayward, C., Gibson, J., Cree, A.J., MacLeod, A., Ennis, S., Polasek, O., Campbell, H., Wilson, J.F., Viswanathan, A.C., Fleck, B., Li, X., Siscovick, D., Taylor, K.D., Rotter, J.I., Yazar, S., Ulmer, M., Li, J., Yaspan, B.L., Ozel, A.B., Richards, J.E., Moroi, S.E., Haines, J.L., Kang, J.H., Pasquale, L.R., Allingham, R.R., Ashley-Koch, A., Mitchell, P., Wang, J.J., Wright, A.F., Pennell, C., Spector, T.D., Young, T.L., Klaver, C.C.W., Martin, N.G., Montgomery, G.W., Anderson, M.G., Aung, T., Willoughby, C.E., Wiggs, J.L., Pang, C.P., Thorsteinsdottir, U., Lotery, A.J., Hammond, C.J., Van Duijn, C.M., Hauser, M.A., Rabinowitz, Y.S., Pfeiffer, N., MacKey, D.A., Craig, J.E., MacGregor, S., Wong, T.Y. (2013-02). Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nature Genetics 45 (2) : 155-163. ScholarBank@NUS Repository. https://doi.org/10.1038/ng.2506 | Abstract: | Central corneal thickness (CCT) is associated with eye conditions including keratoconus and glaucoma. We performed a meta-analysis on >20,000 individuals in European and Asian populations that identified 16 new loci associated with CCT at genome-wide significance (P < 5 × 10-8). We further showed that 2 CCT-associated loci, FOXO1 and FNDC3B, conferred relatively large risks for keratoconus in 2 cohorts with 874 cases and 6,085 controls (rs2721051 near FOXO1 had odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.4-1.88, P = 2.7 × 10 -10, and rs4894535 in FNDC3B had OR = 1.47, 95% CI = 1.29-1.68, P = 4.9 × 10-9). FNDC3B was also associated with primary open-angle glaucoma (P = 5.6 × 10-4; tested in 3 cohorts with 2,979 cases and 7,399 controls). Further analyses implicate the collagen and extracellular matrix pathways in the regulation of CCT. © 2013 Nature America, Inc. All rights reserved. | Source Title: | Nature Genetics | URI: | http://scholarbank.nus.edu.sg/handle/10635/108939 | ISSN: | 10614036 | DOI: | 10.1038/ng.2506 |
| Appears in Collections: | Staff Publications |
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