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


Verhoeven, VJM and Hysi, PG and Wojciechowski, R and Fan, Q and Guggenheim, JA and Hohn, R and Macgregor, S and Hewitt, AW and Nag, A and Cheng, CY and Yonova-Doing, E and Zhou, X and Ikram, MK and Buitendijk, GHS and Mcmahon, G and Kemp, JP and Pourcain, BS and Simpson, CL and Makela, KM and Lehtimaki, T and Kahonen, M and Paterson, AD and Hosseini, SM and Wong, HS and Xu, L and Jonas, JB and Parssinen, O and Wedenoja, J and Yip, SP and Ho, DWH and Pang, CP and Chen, LJ and Burdon, KP and Craig, JE and Klein, BEK and Klein, R and Haller, T and Metspalu, A and Khor, CC and Tai, ES and Aung, T and Vithana, E and Tay, WT and Barathi, VAI and Chen, P and Li, R and Liao, J and Zheng, Y and Ong, RT and Doring, A and Evans, DM and Timpson, NJ and Verkerk, AJMH and Meitinger, T and Raitakari, O and Hawthorne, F and Spector, TD and Karssen, LC and Pirastu, M and Murgia, F and Ang, W and Mishra, A and Montgomery, GW and Pennell, CE and Cumberland, PM and Cotlarciuc, I and Mitchell, P and Wang, JJ and Schache, M and Janmahasathian, S and Igo Jr, RP and Lass, JH and Chew, E and Iyengar, SK and Gorgels, TGMF and Rudan, I and Hayward, C and Wright, AF and Polasek, O and Vatavuk, Z and Wilson, JF and Fleck, B and Zeller, T and Mirshahi, A and Muller, C and Uitterlinden, AG and Rivadeneira, F and Vingerling, JR and Hofman, A and Oostra, BA and Amin, N and Bergen, AAB and Teo, YY and Rahi, JS and Vitart, V and Williams, C and Baird, PN and Wong, TY and Oexle, K and Pfeiffer, N and Mackey, DA and Young, TL and Van Duijn, CM and Saw, S-M and Bailey-Wilson, JE and Stambolian, D and Klaver, CC and Hammond, CJ, Genome-wide meta-analyses of multi-ethnic cohorts identify multiple new susceptibility loci for refractive error and myopia, Nature Genetics, 45, (3) pp. 314-318. ISSN 1061-4036 (2013) [Refereed Article]

Copyright Statement

Copyright 2013 Macmillan Publishers

DOI: doi:10.1038/ng.2554


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.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:90368
Year Published:2013
Web of Science® Times Cited:306
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-04-01
Last Modified:2017-11-06

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