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

journal contribution
posted on 2023-05-17, 23:36 authored by Verhoeven, VJM, Hysi, PG, Wojciechowski, R, Fan, Q, Guggenheim, JA, Hohn, R, Macgregor, S, Alexander HewittAlexander Hewitt, Nag, A, Cheng, CY, Yonova-Doing, E, Zhou, X, Ikram, MK, Buitendijk, GHS, Mcmahon, G, Kemp, JP, Pourcain, BS, Simpson, CL, Makela, KM, Lehtimaki, T, Kahonen, M, Paterson, AD, Hosseini, SM, Wong, HS, Xu, L, Jonas, JB, Parssinen, O, Wedenoja, J, Yip, SP, Ho, DWH, Pang, CP, Chen, LJ, Kathryn BurdonKathryn Burdon, Craig, JE, Klein, BEK, Klein, R, Haller, T, Metspalu, A, Khor, CC, Tai, ES, Aung, T, Vithana, E, Tay, WT, Barathi, VAI, Chen, P, Li, R, Liao, J, Zheng, Y, Ong, RT, Doring, A, Evans, DM, Timpson, NJ, Verkerk, AJMH, Meitinger, T, Raitakari, O, Hawthorne, F, Spector, TD, Karssen, LC, Pirastu, M, Murgia, F, Ang, W, Mishra, A, Montgomery, GW, Pennell, CE, Cumberland, PM, Cotlarciuc, I, Mitchell, P, Wang, JJ, Schache, M, Janmahasathian, S, Igo Jr, RP, Lass, JH, Chew, E, Iyengar, SK, Gorgels, TGMF, Rudan, I, Hayward, C, Wright, AF, Polasek, O, Vatavuk, Z, Wilson, JF, Fleck, B, Zeller, T, Mirshahi, A, Muller, C, Uitterlinden, AG, Rivadeneira, F, Vingerling, JR, Hofman, A, Oostra, BA, Amin, N, Bergen, AAB, Teo, YY, Rahi, JS, Vitart, V, Williams, C, Baird, PN, Wong, TY, Oexle, K, Pfeiffer, N, David MackeyDavid Mackey, Young, TL, Van Duijn, CM, Saw, S-M, Bailey-Wilson, JE, Stambolian, D, Klaver, CC, Hammond, CJ
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.


Publication title

Nature Genetics








Tasmanian School of Medicine


Nature Publishing Group

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345 Park Ave South, New York, USA, Ny, 10010-1707

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Copyright 2013 Macmillan Publishers

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Clinical health not elsewhere classified

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