2025
Evaluating practical approaches for including MYOC variants alongside common variants for genetics-based risk stratification for glaucoma: Including MYOC Variants for Glaucoma Risk Stratification
The researchers investigated methods for identifying carriers of the p.Gln368Ter variant in the MYOC gene, associated with glaucoma risk, using data from the Genetics of Glaucoma (GOG), the QSkin Sun and Health Study (QSKIN), and CARTaGENE cohorts. They found that direct genotyping, with proper quality control measures, showed high accuracy and perfect concordance with sequencing data. Incorporating p.Gln368Ter status into polygenic risk scores (PRS) significantly improved risk stratification for carriers, increasing the proportion classified as high-risk in QSKIN and CARTaGENE. However, adding this variant to PRS did not enhance overall risk prediction for the general population.