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Ancestry gaps in cardiovascular GWAS: a multi-database review of African representation in genomic studies

Diego A Pomales-Matos^1,2, Mac Lyerly³, Alejandro Rivera-Madera⁴

¹Department of Biology, University of Puerto Rico - Rio Piedras Campus, San Juan, PR, United States.

Frontiers in Genetics

|January 29, 2026

Insights

Genetic studies for cardiovascular diseases (CVDs) are biased towards European ancestry, limiting diagnosis and treatment for diverse populations. Addressing this ancestry gap is crucial for equitable healthcare and understanding global genetic diversity in CVDs.

Area of Science:

Genomics
Cardiovascular Medicine
Population Genetics

Background:

Cardiovascular diseases (CVDs) are a leading global cause of death.
Genome-wide association studies (GWASs) have identified numerous CVD-associated genetic variants.
Current genetic research is heavily skewed towards individuals of European ancestry.

Purpose of the Study:

To review the effectiveness of current diagnostic and treatment tools for CVDs in African ancestry populations.
To analyze the persistent diversity gap in cardiovascular genetics across multiple databases.
To raise awareness about ancestry-related disparities in genomic research.

Main Methods:

Literature review of recent research on CVD genomics in diverse populations.
Multi-database analysis to assess genetic diversity in cardiovascular research.
Comparison of diagnostic and treatment tool effectiveness across different ancestries.

Main Results:

Genetic research for CVDs disproportionately represents European ancestry.
Underrepresentation limits understanding and effective management of CVDs in African ancestry populations.
Existing reference datasets poorly capture the genetic diversity of African ancestry populations.

Conclusions:

The ancestry gap in cardiovascular genomics hinders equitable healthcare.
Further research is needed to address genetic disparities in CVD diagnosis and treatment.
Improving genetic databases is essential for inclusive cardiovascular medicine.

Read full analysis

Abstract:

Cardiovascular diseases (CVDs) are the leading cause of death worldwide, claiming millions of lives each year. Genome-wide association studies (GWASs) have identified thousands of CVD-associated variants and have created the foundation for risk assessment and prevention through genetic testing. However, despite all the progress in understanding cardiovascular genomics, our genetic research and findings are overwhelmingly skewed towards individuals of European ancestry. This fact has limited our understanding and effectiveness for the diagnosis and treatment of CVDs in underrepresented populations, such as individuals of African ancestry. This gap is especially consequential because African ancestry populations harbor the greatest global genetic diversity, with variant frequencies and haplotypes that are often poorly captured by current reference datasets. In this review, we highlight recent efforts to understand the effectiveness of current tools in accurately diagnosing and treating CVDs in individuals of African ancestry compared to other populations. Additionally, we also performed a multi-database analysis to explore the persistent diversity gap in cardiovascular genetics. In doing so, we aim to raise awareness about the ancestry gaps faced in disease genomic research, supported by recent findings and the current landscape of our genetic databases.

Keywords:

African ancestries cardiovascular diseases genetic testing genome-wide association studies polygenic risk scores population genomics

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