September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Genome-wide trans-ancestry meta-analysis identifies new susceptibility loci for age-related cortical cataract
Author Affiliations & Notes
  • Wanting Zhao
    Department of Statistics, Singapore Eye Research Institute, Singapore, Singapore
  • Rob P Igo
    Department of Epidemiology and Biostatistics , Case Western Reserve University, Cleveland, Ohio, United States
  • Ekaterina Yonova-Doing
    Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom
  • Gyungah Jun
    Department of Medicine, School of Medicine, Boston University, Boston, Massachusetts, United States
    Neurogenetics and Integrated Genomics, Eisai Product Creation Systems, Andover, Massachusetts, United States
  • Caroline C W Klaver
    Ophthalmology & Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands
  • Barbara E K Klein
    Department of Ophthalmology and Visual Sciences, UNIVERSITY OF WISCONSIN–MADISON , Madison, Wisconsin, United States
  • Christopher J Hammond
    Ophthalmology, King’s College London, London, United Kingdom
  • Ching-Yu Cheng
    Department of Statistics, Singapore Eye Research Institute, Singapore, Singapore
    Duke-National University of Singapore Graduate Medical School, Singapore, Singapore
  • Jie Jin Wang
    Centre for Vision Research, Westmead Institute for Medical Research, University of Sydney, Sydney, Victoria, Australia
  • Sudha K Iyengar
    Department of Epidemiology and Biostatistics , Case Western Reserve University, Cleveland, Ohio, United States
  • Footnotes
    Commercial Relationships   Wanting Zhao, None; Rob Igo, None; Ekaterina Yonova-Doing, None; Gyungah Jun, None; Caroline Klaver, None; Barbara Klein, None; Christopher Hammond, None; Ching-Yu Cheng, None; Jie Jin Wang, None; Sudha Iyengar, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 4834. doi:
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      Wanting Zhao, Rob P Igo, Ekaterina Yonova-Doing, Gyungah Jun, Caroline C W Klaver, Barbara E K Klein, Christopher J Hammond, Ching-Yu Cheng, Jie Jin Wang, Sudha K Iyengar; Genome-wide trans-ancestry meta-analysis identifies new susceptibility loci for age-related cortical cataract. Invest. Ophthalmol. Vis. Sci. 2016;57(12):4834.

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

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Abstract

Purpose : Age-related cataract is a leading cause of visual impairment worldwide, especially in developing countries with limited access to cataract surgery. Cortical cataract is the second most prevalent type of age-related cataract, yet knowledge about its genetic etiology is lacking. We aimed to identify genetic variants influencing age-related cortical cataract.

Methods : We conducted a meta-analysis of genome-wide association studies (GWAS) for age-related cortical cataract, involving 9,055 individuals from 5 cohorts of European ancestry and 7,987 from 6 Asian cohorts. Study individuals were genotyped using either Illumina or Affymetrix platforms. After stringent quality controls, genotype data in each cohort were imputed to the 1000 Genomes reference panel. Severity of cortical lens opacity was measured based on lens photos according established protocols. The phenotype data were rank transformed and normalized before analysis. The genotype and phenotype association was assessed using linear regression analysis under an additive effect model, adjusting for age, gender and principal components. Meta-analysis was conducted under an inverse-variance-weighted fixed-effect model and two random-effects models (DerSimonian-Laird and Han-Eskin).

Results : The combined analysis of both Asian and Caucasian cohorts revealed one genome-wide significant locus and two suggestive susceptibility loci for cortical cataract with low cross-cohort heterogeneity. The most significant locus influencing cortical cataract was observed at chromosome 20q12 (p = 8.4 × 10–10), followed by two loci at chromosome 8q11 (p = 7.3 × 10–8) and 3q26 (p = 1.3 × 10–7). Earlier studies showed that genes at these loci are expressed in ocular tissue and/or involved in development of the eye.

Conclusions : Our study is the first GWAS on age-related cortical cataract. The results yield insights at the gene level for the pathogenesis of age-related cortical cataract.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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