April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
A Genome-wide Association Study Identifies A Novel Locus Influencing Optic Disc Size On Chromosome 22q13.1
Author Affiliations & Notes
  • Eranga N. Vithana
    Ocular Genomics,
    Singapore Eye Research Institute, Singapore, Singapore
    Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
  • Chiea C. Khor
    Infectious Diseases, Genome Institute of Singapore, A*STAR, Singapore, Singapore
  • Wishal D. Ramdas
    Department of Epidemiology, Eramus Medical Center, Rotterdam, The Netherlands
  • Belinda K. Cornes
    SEED,
    Singapore Eye Research Institute, Singapore, Singapore
  • Johannes R. Vingerling
    Department of Epidemiology, Eramus Medical Center, Rotterdam, The Netherlands
  • Caroline C. Klaver
    Department of Epidemiology, Eramus Medical Center, Rotterdam, The Netherlands
  • E-Shyong Tai
    NUS-GIS Center for Molecular Epidemiology, Singapore, Singapore
    Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore, Singapore
  • Tien Y. Wong
    Singapore Eye Research Institute, Singapore, Singapore
    Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
  • Cornelia M. van Duijn
    Department of Epidemiology, Eramus Medical Center, Rotterdam, The Netherlands
  • Tin Aung
    Glaucoma, Singapore National Eye Center, Singapore, Singapore
  • Footnotes
    Commercial Relationships  Eranga N. Vithana, None; Chiea C. Khor, None; Wishal D. Ramdas, None; Belinda K. Cornes, None; Johannes R. Vingerling, None; Caroline C. Klaver, None; E-Shyong Tai, None; Tien Y. Wong, None; Cornelia M. van Duijn, None; Tin Aung, None
  • Footnotes
    Support  NMRC Grant 0796/2003, STaR/0003/2008, BMRC grants 09/1/35/19/616 and 08/1/35/19/550,
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 5876. doi:
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      Eranga N. Vithana, Chiea C. Khor, Wishal D. Ramdas, Belinda K. Cornes, Johannes R. Vingerling, Caroline C. Klaver, E-Shyong Tai, Tien Y. Wong, Cornelia M. van Duijn, Tin Aung; A Genome-wide Association Study Identifies A Novel Locus Influencing Optic Disc Size On Chromosome 22q13.1. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5876.

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

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Abstract

Purpose: : Earlier studies have suggested that the size of the optic nerve head could be governed by hereditary factors. A recent genome-wide association study (GWAS) using data from over 11,000 Caucasians identified three loci for optic disc area. Here we report the identification of a novel locus associated with optic disc size identified through a GWAS study in two cohorts of Asian ethnicity from Singapore.

Methods: : A GWAS was conducted on 4445 Singaporean individuals (N = 2132 of Indian, and N = 2313 of Malay ancestry, respectively), with replication in Rotterdam, the Netherlands (N = 9326 individuals of Caucasian ancestry) using the most widely reported parameter for optic disc traits, the optic disc area.

Results: : We identified a novel locus on chromosome 22q13.1, which strongly associates with optic disc size in both Singaporean cohorts as well as in the Rotterdam Study (per-allele change in optic disc size = 0.051 mm2; Pmeta = 2.73 x 10-12) and confirmed the association between CDC7 / TGFBR3 on chromosome 1p22 (lead SNP rs1192415, Pmeta = 7.57 x 10-17) and ATOH7 on chromosome 10q21.3-22.1 (lead SNP rs7916697, Pmeta = 2.00 x 10-15) and optic disc size in Asians. We did not observe evidence of association with optic disc size at the previously reported chromosome 16q12.1 locus near SALL1.

Conclusions: : This is the first Asian-based genome-wide association study on optic disc size, identifying a novel locus for optic disc size, but also confirming results found in Caucasian persons suggesting that there are general genetic determinants applicable to the size of optic disc across different ethnicities.

Keywords: optic nerve • gene mapping • genetics 
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