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dc.contributor.authorLu, Yi
dc.contributor.authorVitart, Veronique
dc.contributor.authorBurdon, Kathryn Penelope
dc.contributor.authorKhor, Chiea Chuen
dc.date.accessioned2014-03-12T01:32:38Z
dc.date.available2014-03-12T01:32:38Z
dc.date.issued2013-02
dc.identifier.citationLu, 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-35.20en
dc.identifier.issn1061-4036
dc.identifier.urihttp://hdl.handle.net/2328/27514
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720123/
dc.descriptionThe 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.abstractCentral 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.language.isoenen
dc.publisherNature Publishing Groupen
dc.relationhttp://purl.org/au-research/grants/nhmrc/1031362en
dc.relationhttp://purl.org/au-research/grants/nhmrc/535077en
dc.relationhttp://purl.org/au-research/grants/nhmrc/1065433en
dc.rights© Nature Publishing Groupen
dc.subjectGenetics
dc.subjectCentral corneal thickness
dc.subjectGlaucoma
dc.subjectKeratoconus
dc.titleGenome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconusen
dc.typeArticleen
dc.relation.grantnumberNHMRC/1031362en
dc.relation.grantnumberNHMRC/535077en
dc.relation.grantnumberNHMRC/1065433en
dc.identifier.doihttps://doi.org/10.1038/ng.2506en
dc.rights.holderNature Publishing Groupen


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