A team of international researchers discovered 112 genetic variants that may help predict a patient’s risk of developing glaucoma.1 The study, which was published in a recent issue of Nature Genetics, could lead to a genetics-based screening program, allowing patients to be identified as at risk for glaucoma as early as birth, researchers said in a press release.2

The study included 140,000 people drawn from the UK Biobank and EPIC-Norfolk. Since elevated intraocular pressure (IOP) is the most important risk factor for primary open-angle glaucoma (POAG), investigators performed tonometry and compared results with a DNA analysis for each patient. By comparing IOP with a genetic analysis of the many common, small DNA variations that contribute in any way to overall eye pressure, researchers identified 112 genetic variants in the patients with high pressure readings, including 68 novel genetic variants.

“These loci suggest a strong role for angiopoietin-receptor tyrosine kinase signaling, lipid metabolism, mitochondrial function and developmental processes underlying risk for elevated IOP,” researchers said.1

The genetic variations were able to predict whether someone might develop glaucoma with 75% accuracy.2

“Genetic-prediction models for POAG offer an opportunity to target screening and timely therapy to individuals most at risk,” the researchers said.

1. Khawaja AP, Cooke B, Wareham NJ, et al. Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. Nat Genet. May 21, 2018. [Epub ahead of print].
2. Researchers identify genetic variants that may predict glaucoma risk. May 21, 2018. www.ucl.ac.uk/news/news-articles/0518/210518-glaucoma-genetics. Accessed May 31, 2018.