Polygenic Risk Scores Driving Clinical Change in Glaucoma

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dc.contributor.authorKolovos, A.
dc.contributor.authorHassall, M.M.
dc.contributor.authorSiggs, O.M.
dc.contributor.authorSouzeau, E.
dc.contributor.authorCraig, J.E.
dc.date.issued2024
dc.description.abstractGlaucoma 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.
dc.description.statementofresponsibilityAntonia Kolovos, Mark M. Hassall, Owen M. Siggs, Emmanuelle Souzeau, Jamie E. Craig
dc.identifier.citationAnnual Review of Genomics and Human Genetics, 2024; 25(1):287-308
dc.identifier.doi10.1146/annurev-genom-121222-105817
dc.identifier.issn1527-8204
dc.identifier.issn1545-293X
dc.identifier.orcidHassall, M.M. [0000-0002-6180-7954]
dc.identifier.urihttps://hdl.handle.net/2440/147915
dc.language.isoen
dc.publisherAnnual Reviews
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1150144
dc.rights© 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.
dc.source.urihttps://doi.org/10.1146/annurev-genom-121222-105817
dc.subjectglaucoma; polygenic risk score; polygenic score; POAG; PRS; PGS
dc.subject.meshGenetic Predisposition to Disease
dc.subject.meshRisk Factors
dc.subject.meshMultifactorial Inheritance
dc.subject.meshGenome-Wide Association Study
dc.subject.meshGenetic Risk Score
dc.titlePolygenic Risk Scores Driving Clinical Change in Glaucoma
dc.typeJournal article
pubs.publication-statusPublished

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