New Polygenic Risk Score Identifies People at Up to 10 Times the Risk of Open-Angle Glaucoma, Built on Genetic Data From More Than Six Million People
Researchers at QIMR Berghofer and Flinders University in Australia, with international collaborators, published a new polygenic risk score for glaucoma in Ophthalmology. The score combines the effects of millions of genetic variations and was built using genetic data from more than six million people, including almost 300,000 people with glaucoma; the previous version, published in 2020, was based on about 8,000 glaucoma cases.
In Australians of European ancestry, people in the highest 10% of genetic risk were 10 times more likely to have glaucoma than everyone else, compared with about a fourfold increase identified by the earlier test, and developed glaucoma about 25 years earlier on average than those in the lowest 10%. A healthy 65-year-old of European ancestry in the highest 20% of genetic risk has an estimated 10% chance of developing glaucoma within the next decade, compared with 0.4% for someone in the lowest 20%. In a long-term study of people with suspected or early glaucoma, 24% of the highest-risk group required glaucoma surgery by age 80, compared with none in the lowest-risk group. Lead researcher Stuart MacGregor said the test could help clinicians determine who would benefit from closer monitoring and earlier treatment; further studies are needed on cost-effectiveness, and performance was strongest in people of European ancestry. The paper's DOI is 10.1016/j.optha.2026.10.013.
Source: Ophthalmology
Published by GSM · USA (original Chinese edition)
Photo: 图中是青光眼病例的视盘地形图影像。Wikimedia Commons — Jmarchn, CC BY-SA 3.0
