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

CREAM, Diabet Control Complications Trial, WTCCC2, Fuchs' Genetics Multi-Ctr Study Gr, Virginie J. M. Verhoeven, Pirro G. Hysi, Robert Wojciechowski, Qiao Fan, Jeremy A. Guggenheim, Rene Hoehn, Stuart MacGregor, Alex W. Hewitt, Abhishek Nag, Ching-Yu Cheng, Ekaterina Yonova-Doing, Xin Zhou, M. Kamran Ikram, Gabrielle H. S. Buitendijk, George McMahon, John P. KempBeate St Pourcain, Claire L. Simpson, Karl-Matti Makela, Terho Lehtimaki, Mika Kahonen, Andrew D. Paterson, S. Mohsen Hosseini, Hoi Suen Wong, Liang Xu, Jost B. Jonas, Olavi Parssinen, Juho Wedenoja, Shea Ping Yip, Daniel W. H. Ho, Chi Pui Pang, Li Jia Chen, Kathryn P. Burdon, Jamie E. Craig, Barbara E. K. Klein, Ronald Klein, Toomas Haller, Andres Metspalu, Chiea-Chuen Khor, E-Shyong Tai, Tin Aung, Eranga Vithana, Wan-Ting Tay, Veluchamy A. Barathi, Igor Rudan, Caroline Hayward, Alan F. Wright, James F. Wilson, Brian Fleck, Veronique Vitart

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

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.

Original languageEnglish
Pages (from-to)314-318
Number of pages5
JournalNature Genetics
Issue number3
Publication statusPublished - Mar 2013

Keywords / Materials (for Non-textual outputs)

  • GENE
  • ACID


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