Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

dc.contributor.author Lu, Yi
dc.contributor.author Vitart, Veronique
dc.contributor.author Burdon, Kathryn Penelope
dc.contributor.author Khor, Chiea Chuen
dc.date.accessioned 2014-03-12T01:32:38Z
dc.date.available 2014-03-12T01:32:38Z
dc.date.issued 2013-02
dc.description The author manuscript of this article is open access and is freely available online at PubMed Central <http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720123/> en
dc.description.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. en
dc.identifier.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. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nature Genetics 2013;45(2):155-63. IF-35.20 en
dc.identifier.doi https://doi.org/10.1038/ng.2506 en
dc.identifier.issn 1061-4036
dc.identifier.uri http://hdl.handle.net/2328/27514
dc.identifier.uri http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720123/
dc.language.iso en en
dc.publisher Nature Publishing Group en
dc.relation http://purl.org/au-research/grants/nhmrc/1031362 en
dc.relation http://purl.org/au-research/grants/nhmrc/535077 en
dc.relation http://purl.org/au-research/grants/nhmrc/1065433 en
dc.relation.grantnumber NHMRC/1031362 en
dc.relation.grantnumber NHMRC/535077 en
dc.relation.grantnumber NHMRC/1065433 en
dc.rights © Nature Publishing Group en
dc.rights.holder Nature Publishing Group en
dc.subject Genetics
dc.subject Central corneal thickness
dc.subject Glaucoma
dc.subject Keratoconus
dc.title Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus en
dc.type Article en
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