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Differences in Genetic Architecture of Dilated Cardiomyopathy in Patients of African, European Ancestry

A study in the Journal of the American Medical Association finds that patients of African ancestry with dilated cardiomyopathy (DCM) are less likely to have gene variants classified as clinically actionable than patients of European origin. Researchers led by investigators at Ohio State University enrolled patients with DCM who self-identified as non-Hispanic Black, Hispanic, or non-Hispanic white between June 7, 2016, and March 15, 2020 at 25 advanced heart failure programs across the US. Using exome sequencing, they examined variants in 36 DCM-linked genes and classified them as pathogenic, likely pathogenic, or variants of uncertain significance. In this cross-sectional study of 1,198 patients, 8.2 percent of patients of African ancestry had variants classified as pathogenic or likely pathogenic, compared to 25.5 percent of European ancestry patients. While one of the reasons for the difference may be that DCM genetic architecture in African-American individuals differs from that of European-ancestry individuals, the authors also note a need for more representation of patients of African ancestry in clinical and reference datasets so that clinicians can make specific recommendations, test at-risk family members and use the data for gene-specific therapies.