Glaucoma affects more than 3 million people in the United States alone, and those numbers are expected to increase as the population ages. The progressive disease causes irreversible damage to the eye’s optic nerve, resulting in gradual vision loss and eventual blindness. In a 2021 study, scientists identified more than 40 new genetic variants associated with glaucoma, which suggest new areas of focus for treatment.*

An international study

Leading up to their discovery, the research team compared the genes of over 34,000 open-angle glaucoma (OAG) patients with the genes of more than 349,000 unaffected participants. Genetic data was included from people of African, Asian, and European descent. 

“Glaucoma rates are highest in African and Asian ancestry groups, but the largest genetic studies of glaucoma in the past focused on people of European ancestry, said study co-author Puya Gharahkhani, an associate professor of statistical genetics at QIMR Berghofer Medical Research Institute in Australia, in a recent press release.

New pathways for research

In doing the comparison, the team identified 44 new genetic variants for OAG. Genetic variants are the differences in our DNA sequences that influence our face shape, hair color, eye color, skin color, and other factors that make us unique. They can also cause mutations or malfunctions that result in disease.  

According to Dr. Janey Wiggs, associate chief of ophthalmology clinical research at Massachusetts Eye and Ear in Boston and another co-author of the study, the development is cause for excitement. “The number of genes identified,” Wiggs said, “will lead to the discovery of new biological pathways that can lead to glaucoma, and in turn, new targets for therapeutics.” 

If you’d like to read the full study, it can be found on the Nature journal’s website. 

*Preidt, R. (2021, Mar. 3). Scientists Gain Insight Into Genetics of Glaucoma. U.S. News and World Report. https://www.usnews.com/news/health-news/articles/2021-03-03/scientists-gain-insight-into-genetics-of-glaucoma