Scoring Glaucoma Risk Based on Genetic Factors

What: A large, international collaboration has advanced a scoring approach to be used for weighing glaucoma risk and personalizing treatment.

Where: Craig, J et al, “Multitrait Analysis of Glaucoma Identifies New Risk Loci and Enables Polygenic Prediction of Disease Susceptibility and Progression,” Nature Genetics, 2019

BrightFocus Connection: Primary author Jamie Craig PhD (Flinders University of South Australia) develops a glaucoma screening tool with the help of a BrightFocus National Glaucoma Research (NGR) program grant (see link below). His many coauthors on this publication include additional NGR grantees.

Why It Is Important: People whose close relatives have glaucoma have a greater risk of developing the disease themselves. However, no single genetic mutation is responsible; instead, subtle variations in the “coding,” or chemical makeup, of genes may be contributing factors. In research jargon, these variations are known as “single-nucleotide polymorphisms,” or SNPs, and have been identified through large collaborative studies analyzing enormous numbers of genetic samples.

After years of discovery, these researchers have zeroed in on the most common area of genetic risk for glaucoma, involving variants in the myocilin gene, and developed and tested a polygenic risk score (PRS) based on presence of those variants. Highest-scoring individuals are at risk for glaucoma 10 years earlier than the lowest-scoring ones and are at 15-fold increased risk of developing advanced glaucoma requiring surgical intervention. Researchers hope their glaucoma PRS will help eye doctors personalize treatment, including to initiate treatment earlier for high-risk individuals and possibly pursue less intensive monitoring and treatment in lower-risk groups.