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Area of Science:

  • Ophthalmology
  • Genetics
  • Biostatistics

Background:

  • Elevated intraocular pressure (IOP) is a key risk factor for primary open-angle glaucoma.
  • Genetic risk scores (GRS) show potential for screening ocular hypertension.
  • Current GRS for IOP exhibit nonuniform accuracy across the IOP spectrum.

Purpose of the Study:

  • To investigate if specific genetic interaction types explain the nonuniform behavior of GRS for IOP.
  • To test the hypothesis that genotype-by-environment or other genetic interactions underlie GRS inaccuracies.

Main Methods:

  • Cross-sectional genetic association studies utilizing linear and quantile regression.
  • Analysis of 98 genetic variants associated with IOP in UK Biobank participants (N=98,235).
  • Examination of genotype-genotype, genotype-age, and genotype-sex interactions.

Main Results:

  • Genotype-age interactions were more prevalent than expected by chance (14 of 98 variants).
  • For most interacting variants, age amplified the IOP-genotype association.
  • Integrating genotype-age interactions into GRS did not enhance predictive accuracy.

Conclusions:

  • Nonadditive allelic effects, genotype-genotype, and genotype-sex interactions minimally contributed to nonuniform GRS associations.
  • While GRS accuracy varied with age, accounting for genotype-age interactions did not improve overall accuracy.
  • Gene-environment interactions may play a more significant role in the nonuniformity of genetic associations with IOP.