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Subspecialties Glaucoma, Basic & Translational Research

Primary Open-Angle Genetics

Increased IOP and primary open-angle glaucoma (POAG) go hand-in-hand; it’s the most important risk factor for the disease. But why IOP becomes increased has always been a bit of a mystery. Now, the largest genome-wide association study (GWAS) on IOP to date – a meta-analysis of 139,555 European participants – has provided over 100 potential clues (1).

In total, 112 genomic loci were identified to be associated with IOP and POAG, of which 68 were novel. Significantly associated genetic loci included: ANGPT1, ANGPT2, LRIG1 and FER, which are involved in angiopoietin-receptor tyrosine kinase signaling; ME3, VPS13C, GCAT and PTCD2, which are important for mitochondrial function; and DGKG, which is involved in lipid metabolism. The findings open doors for potential screening of at risk patients and personalized glaucoma care, as well as understanding new mechanisms of IOP regulation. Anthony Khawaja, lead author of the study, tells us more.

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About the Author

Ruth Steer

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