Please use this identifier to cite or link to this item: 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
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