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Verhoeven, V.J.M.* ; Hysi, P.G.* ; Wojciechowski, R.* ; Fan, Q.* ; Guggenheim, J.A.* ; Höhn, R.* ; MacGregor, S.* ; Hewitt, A.W.* ; Nag, A.* ; Cheng, C.Y.* ; Yonova-Doing, E.* ; Zhou, X.* ; Ikram, M.K.* ; Buitendijk, G.H.S.* ; McMahon, G.* ; Kemp, J.P.* ; St Pourcain, B.* ; Simpson, C.L.* ; Mäkelä, K.M.* ; Lehtimäki, T.* ; Kähönen, M.* ; Paterson, A.D.* ; Hosseini, S.M.* ; Wong, H.S.* ; Xu, L.* ; Jonas, J.B.* ; Pärssinen, O.* ; Wedenoja, J.* ; Yip, S.P.* ; Ho, D.W.H.* ; Pang, C.P.* ; Chen, L.J.* ; Burdon, K.P.* ; Craig, J.E.* ; Klein, B.E.K.* ; Klein, R.* ; Haller, T.* ; Metspalu, A.* ; Khor, C.C.* ; Tai, E.S.* ; Aung, T.* ; Vithana, E.* ; Tay, W.T.* ; Barathi, V.A.* ; Chen, P.* ; Li, R.Y.* ; Liao, J.M.* ; Zheng, Y.F.* ; Ong, R.T.* ; Döring, A. ; Evans, D.M.* ; Timpson, N.J.* ; Verkerk, A.J.M.H.* ; Meitinger, T.* ; Raitakari, O.* ; Hawthorne, F.* ; Spector, T.D.* ; Karssen, L.C.* ; Pirastu, M.* ; Murgia, F.* ; Ang, W.* ; Mishra, A.* ; Montgomery, G.W.* ; Pennell, C.E.* ; Cumberland, P.M.* ; Cotlarciuc, I.* ; Mitchell, P.* ; Wang, J.J.* ; Schache, M.* ; Janmahasathian, S.* ; Igo, R.P.* ; Lass, J.H.* ; Chew, E.* ; Iyengar, S.K.* ; Gorgels, T.G.M.F.* ; Rudan, I.* ; Hayward, C.* ; Wright, A.F.* ; Polasek, O.* ; Vatavuk, Z.* ; Wilson, J.F.* ; Fleck, B.* ; Zeller, T.* ; Mirshahi, A.* ; Müller, C.* ; Uitterlinden, A.G. ; Rivadeneira, F.* ; Vingerling, J.R.* ; Hofman, A.* ; Oostra, B.* ; Amin, N.* ; Bergen, A.A.B.* ; Teo, Y.Y.* ; Rahi, J.S.* ; Vitart, V.* ; Williams, C.* ; Baird, P.N.* ; Wong, T.Y.* ; Oexle, K.* ; Pfeiffer, N.* ; Mackey, D.A.* ; Young, T.L.* ; van Duijn, C.M.* ; Saw, S.M.* ; Bailey-Wilson, J.E.* ; Stambolian, D.* ; Klaver, C.C.* ; Hammond, C.J.*

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

Nat. Genet. 45, 314-318 (2013)
Verlagsversion Volltext DOI
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Retinal-pigment Epithelium ; Adapted Mouse Retina ; Eye Growth ; Potassium Channel ; Serine-protease ; Association ; Acid ; Expression ; Variants ; Gene
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Zeitschrift Nature Genetics
Quellenangaben Band: 45, Heft: 3, Seiten: 314-318 Artikelnummer: , Supplement: ,
Verlag Nature Publishing Group
Verlagsort New York, NY
Begutachtungsstatus Peer reviewed