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Cheng, C.Y.* ; Schache, M.* ; Ikram, M.K.* ; Young, T.L.* ; Guggenheim, J.A.* ; Vitart, V.* ; MacGregor, S.* ; Verhoeven, V.J.M.* ; Barathi, V.A.* ; Liao, J.M.* ; Hysi, P.G.* ; Bailey-Wilson, J.E.* ; St. Pourcain, B.* ; Kemp, J.P.* ; McMahon, G.* ; Timpson, N.J.* ; Evans, D.M* ; Montgomery, G.W.* ; Mishra, A.* ; Wang, Y.X.* ; Wang, J.J.* ; Rochtchina, E.* ; Polasek, O.* ; Wright, A.F.* ; Amin, N.* ; van Leeuwen, E.M.* ; Wilson, J.F.* ; Pennell, C.E.* ; van Duijn, C.M.* ; de Jong, P.T.V.M.* ; Vingerling, J.R.* ; Zhou, X.* ; Chen, P.* ; Li, R.Y.* ; Tay, W.T.* ; Zheng, Y.F.* ; Chew, M.* ; Burdon, K.P.* ; Craig, J.E.* ; Iyengar, S.K.* ; Igo, R.P.* ; Lass, J.H.* ; Chew, E.Y.* ; Haller, T.* ; Mihailov, E.* ; Metspalu, A.* ; Wedenoja, J.* ; Simpson, C.L.* ; Wojciechowski, R.* ; Höhn, R.* ; Mirshahi, A.* ; Zeller, T.* ; Pfeiffer, N.* ; Lackner, K.J.* ; Bettecken, T. ; Meitinger, T. ; Oexle, K.* ; Pirastu, M.* ; Portas, L.* ; Nag, A.* ; Williams, K.M.* ; Yonova-Doing, E.* ; Klein, R.* ; Klein, B.E.* ; Hosseini, S.M.* ; Paterson, A.D.* ; Mäkelä, K.M.* ; Lehtimäki, T.* ; Kähönen, M.* ; Raitakari, O.* ; Yoshimura, N.* ; Matsuda, F.* ; Chen, L.J.* ; Pang, C.P.* ; Yip, S.P.* ; Yap, M.K.H.* ; Meguro, A.* ; Mizuki, N.* ; Inoko, H.* ; Foster, P.J.* ; Zhao, J.H.* ; Vithana, E.* ; Tai, E.S.* ; Fan, Q.* ; Xu, L.* ; Campbell, H.* ; Fleck, B.* ; Rudan, I.* ; Aung, T.* ; Hofman, A.* ; Uitterlinden, A.G.* ; Bencic, G.* ; Khor, C.C.* ; Forward, H.* ; Pärssinen, O.* ; Mitche, P.* ; Rivadeneira, F.* ; Hewitt, A.W.* ; Williams, C.* ; Oostra, B.A.* ; Teo, Y.Y.* ; Hammond, C.J.* ; Stambolian, D.* ; Mackey, D.A.* ; Klaver, C.C.W.* ; Wong, T.Y.* ; Saw, S.M.* ; Baird, P.N.*

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.

Am. J. Hum. Genet. 93, 264-277 (2013)
DOI
Open Access Green as soon as Postprint is submitted to ZB.
Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL (RSPO1, C3orf26, LAMA2, GJD2, ZNRF3, CD55, MIP, and ALPPL2) and confirmed one previously reported AL locus (ZC3H11B). Of the nine loci, five (LAMA2, GJD2, CD55, ALPPL2, and ZC3H11B) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse experiments and human ocular tissues. Two of the AL genes, RSPO1 and ZNRF3, are involved in Wnt signaling, a pathway playing a major role in the regulation of eyeball size. This study provides evidence of shared genes between AL and refraction, but importantly also suggests that these traits may have unique pathways.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Urban Indian Population ; Singapore Malay Eye ; Blue Mountains Eye ; Visual Impairment ; Susceptibility Loci ; Corneal Curvature ; Spherical Equivalent ; Chinese Children ; Myopia ; Prevalence
ISSN (print) / ISBN 0002-9297
e-ISSN 1537-6605
Journal American Journal of Human Genetics, The
Quellenangaben Volume: 93, Issue: 2, Pages: 264-277 Article Number: , Supplement: ,
Publisher Elsevier
Publishing Place New York, NY
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)