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Publication Detail
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    Verhoeven VJM, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Höhn R, MacGregor S, Hewitt AW, Nag A, Cheng C-Y, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GHS, McMahon G, Kemp JP, Pourcain BS, Simpson CL, Mäkelä K-M, Lehtimäki T, Kähönen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Pärssinen O, Wedenoja J, Yip SP, Ho DWH, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BEK, Klein R, Haller T, Metspalu A, Khor C-C, Tai E-S, Aung T, Vithana E, Tay W-T, Barathi VA, Consortium for Refractive Error and Myopia (CREAM) , Chen P, Li R, Liao J, Zheng Y, Ong RT, Döring A, Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group , Evans DM, Timpson NJ, Verkerk AJMH, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W, Wellcome Trust Case Control Consortium 2 (WTCCC2) , Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasatian S, Igo RP, Lass JH, Chew E, Iyengar SK, Fuchs' Genetics Multi-Center Study Group , Gorgels TGMF, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Müller C, Uitterlinden AG, Rivadeneira F, Vingerling JR, Hofman A, Oostra BA, Amin N, Bergen AAB, Teo Y-Y, Rahi JS, Vitart V, Williams C, Baird PN, Wong T-Y, Oexle K, Pfeiffer N, Mackey DA, Young TL, van Duijn CM, Saw S-M, Bailey-Wilson JE, Stambolian D, Klaver CC, Hammond CJ
  • Publication date:
    03/2013
  • Pagination:
    314, 318
  • Journal:
    Nat Genet
  • Volume:
    45
  • Issue:
    3
  • Status:
    Published
  • Country:
    United States
  • PII:
    ng.2554
  • Language:
    eng
  • Keywords:
    Alcohol Oxidoreductases, Asian Continental Ancestry Group, Bone Morphogenetic Protein 2, European Continental Ancestry Group, Genetic Predisposition to Disease, Genome-Wide Association Study, Homeodomain Proteins, Humans, KCNQ Potassium Channels, Laminin, Myopia, Receptors, AMPA, Refractive Errors, Risk Factors, Serine Proteases, Trans-Activators
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.
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