Newly-Identified Glaucoma-Protective Gene Variants Open Therapeutic Possibilities

Jun 21, 2020 by Iris Dawn Tabangcora



Glaucoma is a leading cause of blindness worldwide affecting almost 80 million people. When pressure behind the eye (intraocular pressure) rises to an extent that can compress the optic nerve head, visual field loss, and/or blindness occurs. Tens of genetic variants have been identified that cause glaucoma, but current treatment options are focused only on controlling intraocular pressure.

Researchers from the University of Helsinki and Stanford University have identified the angiopoietin like 7 (ANGPTL7) gene, the inhibition of which can reduce the risk of glaucoma by lowering intraocular pressure. This is based on large-scale genome and health information data gathered by two big European cohorts, UK Biobank and FinnGen, that studied more than 514, 000 individuals. Both cohorts included clinical data from thousands of people diagnosed with glaucoma with more than 120,000 of these people undergoing intraocular pressure measurement.

This study also found another variant specific to the Finnish population that can significantly reduce the risk of glaucoma. It is more than 50 times more common in the population compared to elsewhere in the world and 8% of Finnish people carry the gene.


        
“We often think of the body as a machine whereby taking a single bolt out of that machine and something could go wrong. In this study that hypothetical bolt made the “machine” work even better by protecting human individuals from glaucoma," said Manuel Rivas, assistant professor of biomedical data science, Stanford University’s School of Medicine, who co-led the study.

This study has provided a better understanding of the genetic mechanisms of glaucoma and discovered new ways of preventing or treating glaucoma that is of particular importance to those who are suffering from it or those who are at risk for increased intraocular pressure, concluding that inhibiting or lowering the level of ANGPTL 7 can be a safe and effective therapeutic strategy for managing glaucoma.

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