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CirculationCardiology

Association of Common Ancestry-Enriched Variants With Cardiomyopathy and Arrhythmias

27 May 20264 min read0 viewsJournal Feed

GIST (Key Takeaways)

  • Circulation, Volume 153, Issue 24 , Page 1915-1927, June 16, 2026. BACKGROUND:Individuals of African ancestry are underrepresented in genetic studies, contributing to disproportionately higher rates of variants of uncertain significance (VUS) and fewer actionable results in genetic testing for cardiomyopathies and arrhythmias.
  • We aimed to determine whether ancestry-enriched VUS confer measurable cardiovascular risk among individuals of African ancestry. METHODS:We identified VUS enriched in individuals of African ancestry in 18 cardiomyopathy and arrhythmia genes.
  • We defined enriched as allele frequency in gnomAD ≥2-fold higher than in European (non-Finnish) individuals, and we confined the analysis to VUS with allele frequency >0.05% in individuals of African ancestry. Associations with cardiovascular phenotypes were assessed in 96 897 individuals of African ancestry from the All of Us (n=65 481) and BioVU (n=31 416) biobanks using fixed-effects meta-analysis.
  • Analyses were stratified by heart failure (HF) status and conventional cardiovascular risk factors. RESULTS:We identified 82 ancestry-enriched VUS.

Clinical Editorial

Summary

Circulation published a clinical update in Cardiology on 27 May 2026.

The item focuses on Association of Common Ancestry-Enriched Variants With Cardiomyopathy and Arrhythmias.

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