Myopic Refractive Error tied with increased Primary Open-Angle Glaucoma risk: study

Refractive error (RE) is the most common form of visual impairment, and myopic RE is associated with an increased risk of primary open-angle glaucoma (POAG). Whether this association represents a causal role of RE in the aetiology of POAG remains unknown.

A study was conducted to evaluate shared genetic influences and investigate the association of myopic RE with the risk for POAG.

Observational analyses were used to evaluate the association between mean spherical equivalent (MSE) RE (continuous trait) or myopia (binary trait) and POAG risk in individuals from the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. To quantify genetic overlap, genome-wide genetic correlation analyses were performed using genome-wide association studies (GWAS) of MSE RE or myopia and POAG from GERA. Potential causal effects were assessed between MSE RE and POAG using 2-sample Mendelian randomization. Genetic variants associated with MSE RE were derived using GWAS summary statistics from a GWAS of RE conducted in 102 117 UK Biobank participants. For POAG, we used GWAS summary statistics from our previous GWAS (3836 POAG cases and 48 065 controls from GERA). Data analyses occurred between July 2020 and October 2021.

Results:

• Their observational analyses included data for 54 755 non-Hispanic White individuals
• Among 4047 individuals with POAG, the mean (SD) age was 73.64 (9.20) years; the mean (SD) age of the 50 708 controls was 65.38 (12.24) years.
• Individuals with POAG had a lower refractive MSE and were more likely to have myopia or high myopia compared with the control participants
• Their genetic correlation analyses demonstrated that POAG was genetically correlated with MSE RE, myopia, and high myopia
• Genetically assessed refractive MSE was negatively associated with POAG risk

These findings demonstrate a shared genetic basis and an association between myopic RE and POAG risk. This may support population POAG risk stratification and screening strategies, based on RE information.

Reference:

Choquet H, Khawaja AP, Jiang C, et al. Association Between Myopic Refractive Error and Primary Open-Angle Glaucoma: A 2-Sample Mendelian Randomization Study. JAMA Ophthalmol. Published online July 28, 2022. doi:10.1001/jamaophthalmol.2022.2762