Polygenic Risk Scores Driving Clinical Change in Glaucoma

Antonia Kolovos, Mark M. Hassall, Owen M. Siggs, Emmanuelle Souzeau, Jamie E. Craig

Research output: Contribution to journalReview articlepeer-review

1 Citation (Scopus)
20 Downloads (Pure)

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.

Original languageEnglish
Pages (from-to)287-308
Number of pages22
JournalAnnual review of genomics and human genetics
Volume25
DOIs
Publication statusPublished - Aug 2024

Keywords

  • glaucoma
  • PGS
  • POAG
  • polygenic risk score
  • polygenic score
  • PRS

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