June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
Genome-wide Meta-Analyses Of Multi-Ethnic Cohorts Identify Multiple New Susceptibility Loci For Refractive Error And Myopia
Author Affiliations & Notes
  • Virginie Verhoeven
    Ophthalmology/Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands
  • Pirro Hysi
    Twin Research and Genetic Epidemiology, King’s College London School of Medicine, London, United Kingdom
  • Robert Wojciechowski
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD
    Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD
  • Jeremy Guggenheim
    Centre for Myopia Research, School of Optometry, The Hong Kong Polytechnic University, Hong Kong, Hong Kong
  • Seang-Mei Saw
    Saw Swee Hock School of Public Health and department of Ophthalmology, National University Health Systems, National University of Singapore, Singapore, Singapore
    Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore
  • Joan Bailey-Wilson
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD
  • Dwight Stambolian
    Ophthalmology, University of Pennsylvania, Philadelphia, PA
  • Caroline Klaver
    Ophthalmology/Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands
  • Christopher Hammond
    Twin Research and Genetic Epidemiology, King’s College London School of Medicine, London, United Kingdom
  • Footnotes
    Commercial Relationships Virginie Verhoeven, None; Pirro Hysi, None; Robert Wojciechowski, None; Jeremy Guggenheim, None; Seang-Mei Saw, None; Joan Bailey-Wilson, None; Dwight Stambolian, None; Caroline Klaver, Bayer (F), Novartis (F), Topcon (F); Christopher Hammond, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 1736. doi:
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      Virginie Verhoeven, Pirro Hysi, Robert Wojciechowski, Jeremy Guggenheim, Seang-Mei Saw, Joan Bailey-Wilson, Dwight Stambolian, Caroline Klaver, Christopher Hammond, ; Genome-wide Meta-Analyses Of Multi-Ethnic Cohorts Identify Multiple New Susceptibility Loci For Refractive Error And Myopia. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1736.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: Refractive error is the most common eye disorder worldwide, and a prominent cause of blindness. Myopia affects over 30% of Caucasian populations, and up to 80% of Asians. We aimed to identify multiple genetic loci that explain the genetic architecture of refractive error.

Methods: The Consortium for Refractive Error and Myopia (CREAM) conducted genome-wide meta-analyses including 37,382 individuals from 27 Caucasian studies, and 8,376 from 5 Asian cohorts. Identified variants were used for genetic risk score assessment.

Results: We identified 16 new loci for refractive error in Caucasians, of which 10 were shared with Asians. Combined analysis revealed 8 additional new loci. The new loci include genes with function in neurotransmission (GRIA4), ion channels (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2, BMP2), and eye development (SIX6, PRSS56). We also confirmed previously reported associations with GJD2 (top SNP rs524952; Pcombined=1.44x10-15) and RASGRF1. Risk score analysis using associated SNPs showed a ten-fold increased risk of myopia for subjects with the highest genetic load.

Conclusions: Our results, accumulated across independent studies from four continents, considerably advance understanding of mechanisms involved in refractive error and myopia.

Keywords: 605 myopia • 677 refractive error development • 539 genetics  
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