Polygenic Risk Score Called Useful to Diagnose Open-Angle Glaucoma

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Glaucoma News

Genetics,Genomics,Genomic Medicine

This study is the first to assess clinical utility of a polygenic risk score for diagnosing primary open-angle glaucoma, researchers said.

A risk score incorporating genetic variants for open-angle glaucoma is accurate enough to help with diagnosis of the condition, an interim study reveals. Although hundreds of genetic changes are linked to the condition, the new study is the first to support using a polygenic risk score to identify patients who require further evaluation.

Along with Louis R. Pasquale, MD, and colleagues from The Mount Sinai Hospital in New York City and Mass Eye and Ear in Boston, Zhao examined the eyes of 261 people with a mean age of 66 years. Participants were between 35 and 90 years old, and almost 57% were women. "Because we're in New York City, we probably have one of the most diverse population of patients to examine," Zhao said. Even so, the group hopes to recruit up to 800 participants and create a population sample more representative of the US population.

The sample sizes were too small to calculate odds ratios for the admixed Americans and Asian ancestral groups.

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