A Glaucoma Polygenic Risk Score Strongly Associated With Disease Prediction And Treatment Intensity.

Purpose: To generate an effective polygenic risk score for glaucoma and measure its efficacy for disease prediction and the intensity of treatment required.Methods: In the discovery stage, a multi-trait analysis was conducted combining data on individuals of European descent from UK Biobank (UKBB) glaucoma case-control genome-wide association study (GWAS, 7,947 cases and 119,318 controls), VCDR (including new data on 67,040 UKBB participants, and International Glaucoma Genetics Consortium, IGGC, N= 23,899), and IOP (including data on 103,914 UKBB participants and GWAS summary statistics from IGGC, N= 29,578). Newly associated SNPs were validated in two independent case-control cohorts. A glaucoma PRS was constructed and evaluated for disease prediction and clinical covariates in independent case-control and prospective studies not used in the generation of the PRS.Results …