A team of researchers has identified a specific gene variant for primary open-angle glaucoma (POAG) in an Afro-Caribbean population, according to a study in the September 24 online version of the Proceedings of the National Academy of Sciences. The researchers—from the Shiley Eye Center, National Eye Institute, and other institutions—examined the entire human genome of 252 POAG patients and 130 control subjects enrolled in the Barbados Family Study of Glaucoma.

Through case-control analysis, they determined that approximately 40% of the POAG patients demonstrated a particular set of single-nucleotide polymorphisms on chromosome 2p. “We have now identified very common gene variants that have a dramatic impact on an individual’s risk for developing glaucoma,” says lead author Kang Zhang, M.D., Ph.D. “Once we understand the specific gene or protein structure that is altered in the disease, we are one step closer to developing gene or stem cell-based therapies to treat glaucoma.”

Jiao X, Yang Z, Yang X, et al. Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados. PNAS. 2009 Sep 24. [Epub ahead of print]