Study finds shared genetic basis and association between myopia, risk for glaucoma
A genetic association study using two-sample Mendelian randomization analysis was able to demonstrate a shared genetic basis and an association between myopic refractive error and the risk for primary open-angle glaucoma.
Observation analyses were conducted to evaluate the association between mean spherical equivalent refractive error and primary open-angle glaucoma (POAG) risk in a cohort from the Genetic Epidemiology Research on Adult Health and Aging consisting of 54,755 non-Hispanic white individuals, of whom 44,344 had refractive error measurements and 4,047 had POAG.
The authors found that POAG cases had lower mean spherical equivalent refractive error and were more likely to have myopia and high myopia compared with controls (40.2% vs. 34.1% for myopia and 8.5% vs. 6.8% for high myopia). Genome-wide genetic correlation analysis using cross-trait linkage disequilibrium score regressions found evidence of a genetic association for POAG, myopia and high myopia. Subsequently, to investigate whether refractive error causally affects the risk for POAG, two-sample Mendelian randomization analyses were conducted using 168 independent genetic variants from a previous genome-wide association study conducted in Europe among 102,117 UK Biobank individuals.
“We found evidence for a causal effect of [refractive error] on POAG risk, as a more negative [mean spherical equivalent refractive error] was associated with an increased risk of POAG,” the authors wrote.
These findings, they noted, support the use of refractive error as a metric to help stratify the risk for POAG in the general population and inform strategies for targeted screening, “which would lead to earlier diagnosis and preventative strategies for high-risk individuals.”
“Altogether, clarifying the nature of the association between [refractive error] and POAG may open new avenues of investigation into the specific mechanisms underlying these vision disorders,” they wrote.
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