Press Release

February 24, 2021
1 min read

International study identifies 127 glaucoma genes


Press Release

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An international group of researchers identified 44 new gene loci and confirmed 83 previously reported loci linked to glaucoma, according to a press release from Massachusetts Eye and Ear.

The study is an international effort including researchers from Australia, the U.K., the Netherlands, Finland, Germany, Singapore, Japan, Nigeria, Ghana, South Africa, Switzerland, Tanzania and the U.S., the release said. The largest genome-wide association study of glaucoma compared the genes of 34,179 subjects with glaucoma and 349,321 control subjects, the release said.

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The study is the first of its kind to employ a cross-ancestry comparison of people of European, African and Asian descent, with previous studies focusing mainly on gene data from people of European descent, the release said.

“Those studies showed genetic tests could be used to help identify who would benefit from sight-saving early monitoring or treatment, but because of the narrow scope of the genetic data, we weren’t sure until now that the genetic indicators were true for people of different ancestries,” Puya Gharahkhani, PhD, associate professor in the statistical genetics group at QIMR Berghofer Medical Research Institute in Australia, said in the release.

The next steps for the research group include focusing on identified loci to improve screening and diagnoses of glaucoma to eventually create new treatments, the release said. An implication of the study is the large collection of genetic variants it produced, allowing more specificity in polygenic risk scores, the release said.