Researchers identify gene variant linked to glaucoma

Gene variants on chromosome 2 could be the cause of glaucoma in a black population, which could in turn lead to future treatments or a possible cure, researchers said in a news release. “The cause and progression of glaucoma are poorly understood, although we know there is a strong genetic predisposition to the disease,” said co-author Robert N. Weinreb, M.D., director of the Hamilton Glaucoma Center and distinguished professor of ophthalmology at UC San Diego. With glaucoma being the leading cause of blindness among blacks—affecting about 5%, of the population—the researchers chose to conduct the study in the Afro-Caribbean population of Barbados, where the incidence of glaucoma is double that figure—nearly 10% of all residents of the island—and where there is a strong genetic predisposition. Looking at 249 patients with glaucoma and 128 control subjects, the research built on early studies that scanned the entire human genome. The scientists then homed in on a particular segment of the human genome, and finally localized the gene on chromosome 2. Along with the researchers from UC San Diego, researchers at the National Eye Institute, National Institutes of Health, along with the Barbados Family Study Group and colleagues in the United States, China and Barbados contributed to the study published in the early online edition of theProceedings of the National Academy of Science (PNAS).

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