A Common CD36 Variant of Dilated Cardiomyopathy in Individuals of African Ancestry

A multicohort genetic association study found that the ancestry-enriched CD36 Y325* variant accounted for a greater population-level burden of dilated cardiomyopathy (DCM) among individuals of predominantly African ancestry than truncating variants in TTN, the most common established monogenic cause of DCM. Across four US cohorts involving 82,623 individuals of predominantly African ancestry, including 1,316 DCM cases, homozygous carriers of CD36 Y325* had 4.8-fold higher odds of DCM, while heterozygous carriers had 1.4-fold higher odds. Although TTN truncating variants were associated with a higher individual risk of DCM (odds ratio, 8.5), the population attributable fraction for CD36 Y325* was 9.0%, compared with 3.7% for TTN truncating variants. These findings highlight the substantial contribution of ancestry-specific genetic variation to DCM risk and underscore the importance of diverse representation in genomic research to improve understanding of disease susceptibility. Source: https://jamanetwork.com/