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Penn Medicine analysis aims to fill knowledge gaps and help guide clinical decisions for a group particularly vulnerable to developing glaucoma
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January 18, 2024
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<p>A new analysis focusing specifically on people of African ancestry identified three gene variants that may be contributing to this population’s susceptibility to developing and being blinded by glaucoma. People of African ancestry are five times as likely as others to develop glaucoma and up to 15 times as likely to be blinded by the condition, but the vast majority of research has used data from people of European ancestry.</p><p>Involving more than 11,200 people of African ancestry, the new study uncovered two particular variants that correlated with primary open-angle glaucoma, the most common form of glaucoma, which is the leading cause of irreversible blindness worldwide. The variants discovered in the analysis were rs1666698, tied to the gene DBF4P2, and rs34957764, linked to ROCK1P1.</p><p>In addition to identifying these two variants as “likely causal” of glaucoma, a third variant was also identified (rs11824032 tied to ARHGEF12), which was associated with cup-to-disc ratio, a measure of glaucoma severity.</p><p>The majority of previously associated variants identified in other ancestral populations did not replicate in these African ancestry subjects, which could be tied to the genetic differences that occur in these different groups.</p><p>With knowledge of the variants now in hand, the researchers hope to influence clinical approaches to glaucoma in this population and work toward reversing inequities that have persisted for many years.</p>
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