Published in

Nature Research, Nature Genetics, 6(45), p. 712-712, 2013

DOI: 10.1038/ng0613-712b

Nature Research, Nature Genetics, 3(45), p. 314-318, 2013

DOI: 10.1038/ng.2554

Links

Tools

Export citation

Search in Google Scholar

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

Journal article published in 2013 by Cm M. van Duijn, Vj J. M. Verhoeven, Verhoeven Vj, Hysi Pg, Robert Wojciechowski, Abhishek Nag, Ekaterina Yonova-Doing, Olavi Parssinen, Bs S. Pourcain ORCID, Xin Zhou, Km-M. Mäkelä, Ad D. Paterson, Cl L. Simpson ORCID, Hs S. Wong, Liang Xu and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

Full text: Download

Green circle
Preprint: archiving allowed
Upload
Orange circle
Postprint: archiving restricted
Upload
Red circle
Published version: archiving forbidden
Policy details
Data provided by SHERPA/RoMEO

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. ; Department of Health Technology and Informatics ; School of Optometry