Ophthalmology Science · 2025

Ancestry-stratified GWAS of strabismus

Genome-wide association analysis of strabismus using whole-genome sequencing and clinical data from the All of Us Research Program.

The research need

Although strabismus has a substantial genetic component, its risk loci and the extent to which associations differ among ancestry groups have remained incompletely understood.

Analysis contribution

Ashish Jain carried out the GWAS analysis, including ancestry-aware cohort preparation, genotype and phenotype quality control, covariate-adjusted association testing, and interpretation of ancestry-specific results.

Research impact

  • Analyzed European, Admixed American, and African American ancestry cohorts separately
  • Identified significant loci in the African American and Admixed American cohorts
  • Produced Manhattan plots and analysis-ready association results
  • Demonstrated the importance of diverse cohorts in strabismus genetics

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