POAAGG maps glaucoma genes

Glaucoma is damage to the optic nerve, the cable that carries visual signals from the eye to the brain, and the damage cannot be reversed once it starts. (med.upenn.edu) Primary open-angle glaucoma is the most common form, and today’s treatments mostly try to lower pressure inside the eye. Penn Medicine says up to 30% of patients still do not respond to available therapies. (med.upenn.edu) (pennmedicine.org) That is the problem the Primary Open-Angle African American Glaucoma Genetics study, or POAAGG, was built to tackle in Philadelphia. The University of Pennsylvania says the project has enrolled more than 10,250 African-ancestry participants from the community. (med.upenn.edu) The reason for focusing on this group is stark: people of African ancestry are five times as likely to develop glaucoma and up to 15 times as likely to lose vision from it. Penn says they also tend to present earlier and with more severe disease. (med.upenn.edu) (nei.nih.gov) In January 2024, a POAAGG-led mega-analysis published in Cell examined 11,275 people of African ancestry, including 6,003 glaucoma cases and 5,272 controls. The study identified two variants linked to primary open-angle glaucoma and a third tied to cup-to-disc ratio, a measure of disease severity. (cell.com) (pennmedicine.org) Penn and the National Eye Institute named those variants as rs1666698 near DBF4P2, rs34957764 near ROCK1P1, and rs11824032 tied to ARHGEF12. Rebecca Salowe said the goal is to define glaucoma subgroups and find targetable pathways for more personalized treatment. (pennmedicine.org) (nei.nih.gov) That matters because many gene signals found in European or Asian datasets did not replicate in this African-ancestry cohort. Penn notes that as of 2019, only 2% of genome-wide association studies had been conducted in people with African ancestry. (pennmedicine.org) POAAGG was designed to pair DNA with detailed eye exams, including pressure readings, visual field tests, and image-based measurements from the Scheie Image Reading Center. That lets researchers compare genetic signals with specific clinical patterns instead of treating glaucoma as one uniform disease. (pennmedicine.org) The project has also depended on community recruiting, not just clinic visits. Penn says the team used mobile screening vans, church partnerships, senior-center events, and WURD radio outreach to bring free glaucoma exams into Philadelphia neighborhoods. (med.upenn.edu) (pennmedicine.org) The next step is not a new drug on the market today. It is a map of which biological pathways may drive different kinds of glaucoma in a group that has long been underrepresented in genetic research. (ophthalmologytimes.com) (nei.nih.gov)