Dilated cardiomyopathy (DCM) is more prevalent among individuals of African descent, but a genetic basis for this increased risk has remained unclear. By integrating genomic and phenotypic data from multiple African ancestry cohorts, we identified a common, ancestry-specific nonsense variant in CD36 that increases DCM risk by impairing myocardial energetics. This variant explains one-fifth of the excess DCM burden observed in individuals of African descent.
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References
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This is a summary of: Huffman, J. E. et al. An African ancestry-specific nonsense variant in CD36 is associated with a higher risk of dilated cardiomyopathy. Nat. Genet. https://doi.org/10.1038/s41588-025-02372-2 (2025).
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CD36 loss-of-function variant underlies dilated cardiomyopathy risk in African ancestry. Nat Genet 57, 2628–2629 (2025). https://doi.org/10.1038/s41588-025-02426-5
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DOI: https://doi.org/10.1038/s41588-025-02426-5
