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Genetic Research on Ocular Health and Disease in a Population from Nepal

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Advances in Vision Research, Volume II

Part of the book series: Essentials in Ophthalmology ((ESSENTIALS))

Abstract

Ocular disease is a major public health concern worldwide, including Asia where large numbers of individuals suffer from blindness and visual impairment. In South Asian countries like Nepal, for example, age-related cataract is a leading cause of blindness and visual impairment. Age-related cataract is influenced by a complex interplay of non-genetic and genetic risk factors. Identifying the genetic risk factors involved can help elucidate the causal biological mechanisms underlying the development and progression of cataract and help identify those individuals at high risk of disease. The primary objective of an ongoing study in the Jirel ethnic group of eastern Nepal (the Jiri Eye Study) is to define the genetic architecture of normal ocular trait variation and characterize genetic factors influencing risk for common ocular diseases such as cataract. The Jirel population has been the focus of genetic epidemiological studies for more than two decades, and a well-documented extended pedigree has been developed for the group making it extremely powerful and informative for genetic studies. All 1292 study participants discussed in the work presented here belong to this single extended pedigree. Members of the Jirel population underwent a comprehensive eye examination that included lens opacity grading in accordance with the Lens Opacities Classification System II (LOCS II). A variance components method was used to estimate heritability of cataract. Of the 1292 participants, 57.0% were female and 43.0% were male. The mean (SD, range) age at exam is 42.0 (16.7, 18–88) years. The prevalence of cataract (any type) in individuals aged 40 years or older is 25.8%, and additive genetic effects (48.3%) play a significant role in determining the risk of developing cataract in this population. The Jirel population is a powerful resource for the study and identification of genetic mechanisms influencing variation observed in ocular health and disease metrics. We anticipate that the Jiri Eye Study will continue to make significant contributions to the genetics of ocular health and disease in Asia.

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Acknowledgments

This study is funded by the National Eye Institute of the National Institutes of Health (grant number EY024384 to MPJ, SWB). Sight-correcting glasses, in part, were kindly donated by the Texas Lions Eyeglass Recycling Center, Midland, Texas. We thank Bashu Dev Adhikari, Pradeep Banjara, Bhim Bdr Jirel, Samana Jirel, Sanjita Jirel, Nukesh Maharjan, Manish Poudel, Tika Rai, Gautam Sherpa, Dr. Mohan Shrestha, Nirag Suwal, and Tom Tripathi from the Tilganga Institute of Ophthalmology and Cecilia Castro, Cecilia Colom, Samantha Gomez, and Johnathon Waggoner from the South Texas Diabetes and Obesity Institute for assistance. We thank the Jirel people for their generous collaboration with the Jiri Family Studies over the past 32 years.

Compliance with Ethical Requirements

All procedures were in accordance with the ethical standards of and approved by the University of Texas Rio Grande Valley Institutional Review Board (IRB# 2016-093-05) and the National Health Research Council of Nepal (Reg. No. 177/2014). Procedures were in accordance with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all individuals prior to participating in the study. All authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. South Texas Diabetes and Obesity Institute, Brownsville, TX, USA

    Matthew P. Johnson, Sandra Laston, John Blangero & Sarah Williams-Blangero

  2. Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, Brownsville, TX, USA

    Matthew P. Johnson, Sandra Laston, John Blangero & Sarah Williams-Blangero

  3. Tilganga Institute of Ophthalmology, Kathmandu, Nepal

    Suman S. Thapa

  4. Department of Ophthalmology, School of Medicine, UT Health San Antonio, San Antonio, TX, USA

    Kent L. Anderson

  5. Department of Population and Public Health Sciences, Boonshoft School of Medicine, Wright State University, Kettering, OH, USA

    Bradford Towne

  6. Department of Sociology and Gerontology, College of Arts and Science, Miami University, Oxford, OH, USA

    Janardan Subedi

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Correspondence to Matthew P. Johnson .

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Editors and Affiliations

  1. National Eye Institute, National Institutes of Health, Bethesda, MD, USA

    Gyan Prakash

  2. National Institute of Sensory Organs Tokyo Medical Center, National Hospital Organization, Tokyo, Japan

    Takeshi Iwata

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Johnson, M.P. et al. (2019). Genetic Research on Ocular Health and Disease in a Population from Nepal. In: Prakash, G., Iwata, T. (eds) Advances in Vision Research, Volume II. Essentials in Ophthalmology. Springer, Singapore. https://doi.org/10.1007/978-981-13-0884-0_8

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  • DOI: https://doi.org/10.1007/978-981-13-0884-0_8

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