Circulation, Volume 153, Issue 24 , Page 1928-1939, June 16, 2026. BACKGROUND:Familial hypercholesterolemia (FH) is an inherited disorder characterized by lifelong elevated LDL-C (low-density lipoprotein cholesterol) and increased risk for premature myocardial infarction.
FH research has focused on European populations and, consequently, estimates of global FH burden primarily reflect this ancestry, with limited data available from other groups.METHODS:We examined the prevalence and clinical outcomes of FH among 104 300 African ancestry individuals enrolled in 3 US-based cohorts: the National Institutes of Health’s All of Us, Mount Sinai’s BioMe, and Geisinger’s MyCode. Genetic variants were evaluated according to standards provided by the Clinical Genome Resource’s FH Variant Curation Expert Panel and grouped as pathogenic variants or variants of unknown significance (VUSs).
Participants were assigned to European and African ancestry groups based on genetic similarity to reference populations. Clinical outcomes were LDL-C and myocardial infarction.
Analyses were adjusted for age and sex. Results were meta-analyzed across cohorts.RESULTS:The prevalence of a pathogenic variant was similar in the African (1 in 306) and European (1 in 273) ancestry groups.
Circulation published a clinical update in Cardiology on 29 May 2026.
The item focuses on A Genome-First Study of Familial Hypercholesterolemia Comparing African and European Ancestry Individuals.
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