Researchers for the first time analyzed genes in more than 34,000 people with glaucoma across multiple ancestries and found 44 new genetic variants that may lead to new treatment targets.
February 24, 2021

In the largest genome-wide association study of glaucoma comparing the genes of 34,179 people with the disease to 349,321 control subjects, an international consortium of researchers identified 44 new gene loci and confirmed 83 previously reported loci linked to glaucoma. Loci are considered “genetic street addresses,” denoting a specific location on a gene.

The study’s authors hope the identification of these genes will lead to new treatment targets for this incurable eye disease that is a leading cause of blindness worldwide.

“These new findings come out of the highest-powered genome-wide association study of glaucoma to date, and show the power of team science and using big data to answer questions when research groups around the world join forces,” said co-senior study author Janey L. Wiggs, MD, PhD, Associate Chief of Ophthalmology Clinical Research at Mass Eye and Ear, and the Paul Austin Chandler Professor of Ophthalmology and Vice Chair of Clinical Research at Harvard Medical School. “The number of genes identified will lead to the discovery of new biological pathways that can lead to glaucoma, and in turn, new targets for therapeutics."