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Updated: May 28, 2026
08:59
T and B Cell Receptor Immune Repertoire Analysis using Next-generation Sequencing
Published on: January 12, 2021
Exploring Genetic Variations Associated with the Immune Response in Underrepresented Populations
Ana Laura Hernández-Ledesma1, Evelia Lorena Coss-Navarrete1, Grecia Sevilla-Parra1
1Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Santiago de Querétaro, México;
Annual Review of Biomedical Data Science
|May 26, 2026
Summary
Genomic studies on immune responses are heavily skewed towards European populations. Increasing ancestry diversity in genetic research is crucial for understanding immune traits across all global populations.
Area of Science:
- Immunogenomics
- Genetics
- Population Health
Background:
- The immune system's function is influenced by genetic factors, with variants linked to disease susceptibility.
- Previous genomic studies have predominantly focused on European ancestries, creating a significant knowledge gap.
Purpose of the Study:
- To evaluate the representation of diverse ancestries in global genome-wide association studies (GWAS) of immune-related traits.
- To highlight the implications of ancestry imbalance in immunogenomic research.
Main Methods:
- Systematic identification and characterization of 206 studies investigating immune-related traits from the GWAS Catalog.
- Analysis of recruitment site data to assess global ancestry representation.
Main Results:
- The majority of GWAS data for immune traits originates from European cohorts.
- African, Latin American, Native American, Oceanian, and Asian ancestries are significantly underrepresented.
- This imbalance limits the discovery of ancestry-specific immune biology and reduces risk prediction accuracy.
Conclusions:
- The lack of diversity in genomic studies hinders comprehensive understanding of immune genetics.
- Expanding ancestry representation is vital for equitable clinical translation and equitable health benefits from immunogenomic discoveries.
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