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A Common CD36 Variant and the Genetic Landscape of Dilated Cardiomyopathy in Individuals of African Ancestry.
JAMA · · Journal Article
Challa, Biddinger + more
Abstract ↗AI summary
The abstract is read at the publisher; the summary is JClub's.
A common CD36 nonsense variant is linked to a higher DCM risk in individuals of African ancestry, with a population attributable fraction of 9.0%, exceeding that of TTN truncating variants.
- Why it matters: Understanding genetic factors underlying DCM in African ancestry populations is crucial because they experience higher disease burden and familial clustering, yet their genetic architecture remains less characterized.
- What they did: The study analyzed exome and genome sequences from four US cohorts, comparing the contribution of the CD36 Y325* variant, TTN truncating variants, and other DCM-related gene variants among 82,623 individuals of African and European ancestry.
- The result: Homozygous carriers of the CD36 Y325* variant had an OR of 4.8 for DCM, and the population attributable fraction for CD36 surpassed that of TTN truncating variants, indicating a significant role of this variant in DCM risk among individuals of African ancestry.
The findingWhy it mattersWhat they didThe result