A new analysis focusing specifically on people of African ancestry identifies three gene variants that may be contributing to this population’s susceptibility to developing and being blinded by glaucoma. People of African ancestry are five times as likely as others to develop glaucoma and up to 15 times as likely to be blinded by the condition, but the vast majority of research has used data from people of European ancestry. Led by researchers at the Perelman School of Medicine, the study is published in Cell.
“Our work is an important step toward defining subgroups of glaucoma, providing the capability for early screening, and discovering targetable pathways for personalized therapeutic interventions,” says study author Rebecca Salowe, a research project manager in the lab of senior author Joan O’Brien, a professor of ophthalmology and director of the Penn Center for Genetics of Complex Disease.
Involving more than 11,200 people of African ancestry, the new study uncovers two particular variants that correlated with primary open-angle glaucoma, the most common form of glaucoma, which is the leading cause of irreversible blindness worldwide.
In addition to identifying these two variants as “likely causal” of glaucoma, a third variant is also identified, which is associated with cup-to-disc ratio, a measure of glaucoma severity.
Read more at Penn Medicine News.
