September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Progress and challenges in genetic and epigenetic epidemiology of age-related eye diseases
Author Affiliations & Notes
  • Ching-Yu Cheng
    Singapore Eye Research Institute and Duke-NUS Graduate Medical School, Singapore, Singapore
  • Footnotes
    Commercial Relationships   Ching-Yu Cheng, None
  • Footnotes
    Support  NMRC CSA/033/2012, Singapore
Investigative Ophthalmology & Visual Science September 2016, Vol.57, No Pagination Specified. doi:
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      Ching-Yu Cheng; Progress and challenges in genetic and epigenetic epidemiology of age-related eye diseases. Invest. Ophthalmol. Vis. Sci. 201657(12):.

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

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Presentation Description : Genetic epidemiology studies, such as genome-wide association studies, have successfully identified hundreds of genetic variants associated with age-related eye disease, and have provided valuable information on gene-environmental interaction. However, the exact mechanisms by which how genetic and environmental factors epigenetically interlay and lead to the onset of diseases are poorly understood. Epigenetic epidemiology refers to the study of variation in epigenetic changes (ex., DNA methylation and histone modification) and the risk of diseases in populations. Its application to the field of age-related disease has provided insight into how environmental exposures influence the epigenome and suggested the mechanistic link between environmental factors, genetic variants, and common aging diseases. Compared to disease gene identification, investigating epigenetics of eye diseases in human populations is more challenging, as epigenetic changes are generally cell- or tissue-specific and vary over short intervals. This presentation will summarize the recent discovery of susceptibility genes for aging eye diseases, such as age-related cataract and macular degeneration, and discuss some of the challenges and promises in studying epigenetic changes of age-related eye diseases in populations.

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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