MINI REVIEW article
Front. Genet.
Sec. Applied Genetic Epidemiology
This article is part of the Research TopicUncovering Genetic Variations in Immigrant Communities for Inclusive GWAS FindingsView all 3 articles
Ancestry Gaps in Cardiovascular GWAS: A Multi-Database Review of African Representation in Genomic Studies
Provisionally accepted
Diego A. Pomales-Matos1,2
Mac Lyerly3Alejandro Rivera-Madera4
Oswaldo L. Echevarría-Bonilla1
Miguel Álvarez-Cortés5Saul E. Henriquez-Quiñones5
Giselle M. Reyes-Sosa5Rafael A. Villanueva-Nogueras6
Edwin G. Peña-Martínez1*- 1University of Puerto Rico, San Juan, Puerto Rico
- 2Stanford University Department of Genetics, Stanford, United States
- 3Wake Forest University Department of Translational Neuroscience, Winston-Salem, United States
- 4The University of Chicago Department of Biochemistry and Molecular Biology, Chicago, United States
- 5Universidad de Puerto Rico Recinto de Ciencias Medicas, San Juan, Puerto Rico
- 6Caribbean University, Bayamón, Puerto Rico
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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 e_ectiveness 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 e_orts to understand the e_ectiveness 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
Received: 14 Jun 2025; Accepted: 19 Dec 2025.
Copyright: © 2025 Pomales-Matos, Lyerly, Rivera-Madera, Echevarría-Bonilla, Álvarez-Cortés, Henriquez-Quiñones, Reyes-Sosa, Villanueva-Nogueras and Peña-Martínez. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Edwin G. Peña-Martínez
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