Refereed journal article or data article (A1)

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




List of AuthorsVerhoeven VJM, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Hohn R, MacGregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GHS, McMahon G, Kemp JP, St Pourcain B, 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, Burdon KP, Craig JE, Klein BEK, Klein R, Haller T, Metspalu A, Khor CC, Tai ES, Aung T, Vithana E, Tay WT, Barathi VA, Chen P, Li RY, Liao JM, Zheng YF, 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 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 B, Amin N, Bergen AAB, Teo YY, Rahi JS, Vitart V, Williams C, Baird PN, Wong TY, Oexle K, Pfeiffer N, Mackey DA, Young TL, van Duijn CM, Saw SM, Bailey-Wilson JE, Stambolian D, Klaver CC, Hammond CJ

PublisherNATURE PUBLISHING GROUP

Publication year2013

JournalNature Genetics

Journal name in sourceNATURE GENETICS

Journal acronymNAT GENET

Number in series3

Volume number45

Issue number3

Start page314

End page318

Number of pages5

ISSN1061-4036

DOIhttp://dx.doi.org/10.1038/ng.2554


Abstract
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.


Research Areas


Last updated on 2021-24-06 at 10:52