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

V Verhoeven, Pirro Hysi, Robert Wojciechowski, Q Fan, J Guggenheim, R Höhn, Stuart MacGregor, Alex Hewitt, A Nag, C Cheng, C Yonova-Doing, X Zhou, M Ikram, G Buitendijk, George McMahon, John Kemp, Beate St Pourcain, Claire Simpson, Kari-Matti Mäkelä, Terho LehtimäkiMika Kähönen, Andrew Paterson, S Hosseini, Hoi Wong, Liang Xu, Jost Jonas, Olavi Pärssinen, Juho Wedenoja, Shea Yip, Daniel Ho, Chi Pui Pang, Li Chen, Kathryn Burdon, Jamie Craig, Barbara Klein, Ronald Klein, Toomas Haller, Andres Matspalu, Chiea-Chuen Khor, E-Shyong Tai, Tin Aung, Eranga Vithana, Wan-Ting Tay, Veluchamy Barathi, David Evans, Nicholas Timpson, Annemieke Verkerk, Thomas Meitinger, Olli Raitakari, Felicia Hawthorne, Tim Spector, Lennart Karssen, Mario Pirastu, Federico Murgia, Wei Ang, Aniket Mishra, Grant Montgomery, Craig Pennell, Phillippa Cumberland, Ioana Cotlarciuc, Paul Mitchell, Jie Wang, Maria Schache, Sarayut Janmahasatian, Robert Igo, Jonathan Lass, Emily Chew, Sudha Iyengar, Theo Gorgels, Igor Rudan, Caroline Hayward, Alan Wright, Ozren Polasek, Zoran Vatavuk, James Wilson, Brian Fleck, Tanja Zeller, Alireza Mirshahi, Christian Müller, André Uitterlinden, Rivadeneira, Johannes Vingerling, Albert Hofman, Ben Oostra, Najaf Amin, Arthur Bergen, Yik-Ying Teo, Jugnoo Rahi, Veronique Vitart, Cathy Williams, Paul Baird, Tien Wong, Konrad Oexle, Norbert Pfeiffer, David Mackey, Terri Young, Cornelia van Duijn, Seang-Mei Saw, Joan Bailey-Wilson, Dwight Stambolian, Caroline Klaver, Christopher Hammond

    Research output: Contribution to journalArticlepeer-review

    284 Citations (Scopus)


    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 - 1 Mar 2013


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