In a largest study published in Cell, scientists have identified several new genetic variants associated with glaucoma in people of African ancestry. This represents the largest analysis ever conducted on genetic risk factors for glaucoma in this population, offering hope for early identification and intervention.

Glaucoma is a disease that damages the nerve that connects the eye to the brain. It can make people lose their sight. It is very common around the world and affects 44 million people. The study looked at how likely people with African roots are to get glaucoma. They found that they are more likely to get it than people with white skin. The study also tried to include more people with different backgrounds, because most of the previous studies only looked at people with European roots.

Joan O'Brien, a geneticist at the University of Pennsylvania, led the research team in overcoming historical challenges in enrolling black participants by reaching out to communities through churches and radio stations. With over 6,000 participants, half of whom had glaucoma, and additional data from 5,000 individuals, this study is so far the largest of its kind.

The findings revealed 46 locations in the genomes associated with glaucoma, with three novel genetic variants identified as potential causes of the condition in this population. The study is important because it not only identifies these genetic variations but also goes further by creating a polygenic risk score for predicting diseases, surpassing earlier models that were based on data from individuals of European ancestry.

"This is long overdue," remarks Yutao Liu, a human geneticist at Augusta University, emphasising the potential for targeted medications tailored to the genetic variants prevalent in people of African ancestry.

The research team's next step involves collaborating with the Los Angeles Latino Eye Study to investigate gene variants associated with glaucoma in the Latino population. The potential impact of these findings on patient care is considerable, marking a crucial step towards a more comprehensive understanding and management of glaucoma.