June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
Defining interactions between genetic variation and environment in glaucoma
Author Affiliations & Notes
  • David Mackey
    Lions Eye Institute, University of Western Australia Centre for Ophthalmology and Visual Science, Perth, Western Australia, Australia
  • Footnotes
    Commercial Relationships   David Mackey None
  • Footnotes
    Support  National Health and Medical Research Council APP1154518
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 4756. doi:
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      David Mackey; Defining interactions between genetic variation and environment in glaucoma. Invest. Ophthalmol. Vis. Sci. 2023;64(8):4756.

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

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Abstract

Presentation Description : Although glaucoma is a highly heritable disease, and many glaucoma genes have been identified through linkage studies and genome-wide association studies, there are also many environmental factors that have been associated with glaucoma in epidemiological studies.
Most diseases are due to a combination of genetic and environmental factors and some environmental factors have genes that contribute to them. This allows Mendelian Randomization (MR), a method used to show if the genes contributing to an environmental factor also contribute to a disease outcome such as glaucoma.
There have been MR studies on body mass index, glycemic traits, myopia, statins, coffee consumption, serum copper, obstructive sleep apnea, fatty acids, HDL cholesterol, and ascorbic acid. Although some of these studies are supportive of an association, many have borderline results. Increased genetic discoveries and larger cohorts will help improve MR.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

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