Exploring Genetic Variations Associated with the Immune Response in Underrepresented Populations

The immune system protects the body through tightly coordinated innate and adaptive responses shaped largely by an individual's genetic background. Genetic variants associated with immune responses provide key pathways underlying disease susceptibility. Historically, the large majority of genomic studies have focused on European populations, potentially limiting our understanding of the relation between genetics and immune response in distinct ancestries. To assess this imbalance, we identified and characterized 206 studies from 370 recruitment sites worldwide that investigated immune-related traits in the GWAS Catalog. European cohorts dominated the data, with minimal representation from African, Latin American and Native American, Oceanian, and Asian ancestries. This imbalance limits discovery of ancestry-specific biology, reduces the accuracy of risk prediction outside Europe, and limits clinical translation. Expanding ancestry diversity in genomic research is essential to uncover the full spectrum of genetic architecture that shapes immune traits and diseases and to ensure that discoveries in immunogenomics benefit all populations on Earth.