Gene variants for people susceptible to glaucoma identified

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.