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Type: Journal article
Title: Risk stratification and clinical utility of polygenic risk scores in ophthalmology
Author: Qassim, A.
Souzeau, E.
Hollitt, G.
Hassall, M.M.
Siggs, O.M.
Craig, J.E.
Citation: Translational Vision Science and Technology, 2021; 10(6):1-14
Publisher: Association for Research in Vision and Ophthalmology (ARVO)
Issue Date: 2021
ISSN: 2164-2591
Statement of
Ayub Qassim, Emmanuelle Souzeau, Georgie Hollitt, Mark M. Hassall, Owen M. Siggs, and Jamie E. Craig
Abstract: Combining genetic and clinical data into an informative risk prediction profile has been an important ambition of personalized medicine. Single-nucleotide polymorphisms are commonly found throughout the genome and account for the majority of interindividual genetic variation. To date, genome-wide association studies have led to the discovery of thousands of disease-associated loci, including across dozens of ophthalmic diseases and traits. However, compared with the clinical utility of identifying rare Mendelian variants, the translation of these results to clinical practice has so far been limited because such variants are found commonly in the population, and individually account for a very small risk. Recently, combining large numbers of these genetic variants into polygenic risk scores (PRS) has shown clinically meaningful risk prediction across several common diseases. PRS have the potential to translate the discovery of common risk variants into individualized disease risk prediction, prognostication, and may enable targeted treatments. In this context, we review the clinical utility of PRS in three common, genetically complex ophthalmic conditions: primary open angle glaucoma, age-related macular degeneration, and myopia. Translational Relevance: Common genetic variants can be used to effectively stratify the risk of disease development and progression and may be used to guide screening, triaging, monitoring, or treatment thresholds.
Keywords: Polygenic risk scores; risk prediction; common complex disease; GWAS
Rights: Copyright 2021 The Authors. This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
DOI: 10.1167/tvst.10.6.14
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Opthalmology & Visual Sciences publications

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