Shape of eye’s central pit is strongly linked to genetics
In 39,521 UK Biobank participants, genetic differences accounted for an estimated 29% to 43% of variation across six measures of the retina’s central pit.
Limit: Genetic ancestry tracks foveal shape and could confound associations with individual genetic variants
Edited by Boris Djordjevic · AgingResearch.News
In an observational study of 39,521 UK Biobank participants, researchers analyzed eye scans to measure six aspects of the fovea, the small depression in the retina that supports sharp central vision. They searched for genetic differences associated with these measures.
The analysis identified 162 lead DNA regions linked to foveal shape. It implicated genes involved in pigmentation and how tissues take shape during development. Foveal shape also varied with sex and genetic ancestry. The volume of the foveal pit was associated with future age-related macular degeneration, a disease affecting central vision. The reported hazard ratio, which compares rates of disease developing over time, was 1.09. A Mendelian randomization analysis, which uses genetic differences to examine links between traits, supported this association.
Why it matters
Age-related macular degeneration threatens central vision. Understanding inherited variation in the structure supporting that vision may help clarify susceptibility to this age-related disease.
Caveats
These observational and genetic analyses do not establish cause and effect; the abstract also does not specify the pit-volume difference represented by the hazard ratio. The shape measures were strongly correlated, leaving unclear whether the disease association was specific to pit volume.
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