June 2015
Volume 56, Issue 7
ARVO Annual Meeting Abstract  |   June 2015
Genetic epidemiology of ocular health and disease in eastern Nepal: The Jiri Eye Study (JES)
Author Affiliations & Notes
  • Matthew P Johnson
    Genetics, Texas Biomedical Research Institute, San Antonio, TX
  • Suman S Thapa
    Tilganga Institute of Ophthalmology, Kathmandu, Nepal
  • Kent L Anderson
    Ophthalmology, University of Texas Health Science Center at San Antonio, San Antonio, TX
  • Bradford Towne
    Community Health, Wright State University, Kettering, OH
  • Janardan Subedi
    Sociology and Gerontology, Miami University, Oxford, OH
  • John Blangero
    Genetics, Texas Biomedical Research Institute, San Antonio, TX
  • Sarah Williams-Blangero
    South Texas Diabetes and Obesity Institute, University of Texas Health Science Center at San Antonio Regional Academic Center, Harlingen, TX
  • Footnotes
    Commercial Relationships Matthew Johnson, None; Suman Thapa, None; Kent Anderson, None; Bradford Towne, None; Janardan Subedi, None; John Blangero, None; Sarah Williams-Blangero, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2015, Vol.56, 1249. doi:https://doi.org/
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      Matthew P Johnson, Suman S Thapa, Kent L Anderson, Bradford Towne, Janardan Subedi, John Blangero, Sarah Williams-Blangero; Genetic epidemiology of ocular health and disease in eastern Nepal: The Jiri Eye Study (JES). Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):1249. doi: https://doi.org/.

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

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Purpose: Approximately 90% (n=660 million) of the world’s visually impaired reside in developing countries. Combating ocular-related health problems in these countries is critical if we are to reduce the global burden associated with visual impairment (VI). The primary objective of a new study established in eastern Nepal and focused on the Jirel ethnic group is to identify rare functional variants that influence VI. Nepal is a developing country where the prevalence of VI across regions ranges from 7% to 42%.

Methods: Our family-based study design will recruit 2,000 members of the Jirel population to undergo, likely for the first time, an eye examination to document, in part, the prevalence of ocular diseases known to influence VI (e.g., age-related cataract, glaucoma). We will use SOLAR to determine the underlying genetic architecture (heritability, pleiotropy) of all measured ocular-related traits and disease end-points. An existing high-density framework of genetic variants will be used in a joint linkage/association analysis procedure to localize genomic regions (QTLs) most likely to harbor ocular candidate genes. An exome sequencing strategy will be employed to objectively prioritize rare functional variants influencing ocular QTLs. An independent, population-based cohort (n=2,200) from the Bhaktapur District of Nepal will be used to replicate findings.

Results: The Jirels belong to a single extended pedigree containing >62,000 pair-wise relationships that are informative for genetic analysis. The Jirel pedigree has 80% power to detect an additive genetic heritability as low as 6.5%, a genetic correlation between two traits as low as 4.4%, and a genetic association explaining as little as 1.1% of the variation observed in a tested trait. The 316 founders of the Jirel pedigree could maximally transmit 10 to 112 copies of a private variant. The average probability that one of the Jirel founders disseminates five extra copies of a private variant ranges from 0.20 to 0.92.

Conclusions: The Jirel population is ideal for identifying functional rare variants due to its genetic isolation and deep genealogical relationships. Results from our well-powered study design will explicitly implicate genes in causal biological pathways influencing VI trait variance and therefore, encourage testing of these genes in other global populations.


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