A new study involving more than 11,200 people of African ancestry identified three gene variants that may contribute to the population’s susceptibility to developing glaucoma.
Led by researchers at the Perelman School of Medicine at the University of Pennsylvania and published in Cell, the new study uncovered two particular variants that correlated with primary open-angle glaucoma.
The variants included rs1666698, tied to the gene DBF4P2, and rs34957764, linked to ROCK1P1, while a third variant identified was rs11824032 tied to ARHGEF12, associated with cup-to-disc ratio, a measure of glaucoma severity.
‘Our work is an important step toward defining subgroups of glaucoma, providing the capability for early screening, and discovering targetable pathways for personalised therapeutic interventions,’ said study author and research project manager Rebecca Salowe.
‘With current treatments for glaucoma having limited success, there is an urgent need for large genetic studies to identify novel targets for screening and therapeutic intervention in African ancestry individuals,’ she added.
The research was led by Shefali Setia Verma, an assistant professor in pathology and laboratory medicine; Salowe; Joan O’Brien, a professor of ophthalmology and director of the Penn Center for Genetics of Complex Disease and Marylyn Ritchie, professor of genetics and director of the Institute of biomedical informatics.