Polygenic Risk Scores Driving Clinical Change in Glaucoma
Date
2024
Authors
Kolovos, A.
Hassall, M.M.
Siggs, O.M.
Souzeau, E.
Craig, J.E.
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Journal article
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Annual Review of Genomics and Human Genetics, 2024; 25(1):287-308
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Antonia Kolovos, Mark M. Hassall, Owen M. Siggs, Emmanuelle Souzeau, Jamie E. Craig
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Abstract
Glaucoma is a clinically heterogeneous disease and the world's leading cause of irreversible blindness. Therapeutic intervention can prevent blindness but relies on early diagnosis, and current clinical risk factors are limited in their ability to predict who will develop sight-threatening glaucoma. The high heritability of glaucoma makes it an ideal substrate for genetic risk prediction, with the bulk of risk being polygenic in nature. Here, we summarize the foundations of glaucoma genetic risk, the development of polygenic risk prediction instruments, and emerging opportunities for genetic risk stratification. Although challenges remain, genetic risk stratification will significantly improve glaucoma screening and management.
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© 2024 by the author(s). This work is licensed under a Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. See credit lines of images or other third-party material in this article for license information.