Common CD36 variant may be the leading genetic cause of dilated cardiomyopathy in people of African ancestry, JAMA study suggests

A genetic association study published in JAMA and led by Cleveland Clinic suggests that a common variant in the CD36 gene may be the leading known genetic contributor to dilated cardiomyopathy (DCM) — a weakening and enlargement of the heart muscle that is an important cause of heart failure and heart transplantation — in people of African ancestry.

The study

• Researchers analysed 82,623 people of African ancestry in four US datasets; their average age was 53, and 1,625 had DCM.
• The CD36 variant is carried by about 17% of people of African ancestry and is virtually absent in people of European ancestry.
• About 1% carried two copies; they had roughly five times the odds of DCM compared with non-carriers.
• The variant was estimated to account for about 9% of DCM cases in this population, compared with about 4% for variants in TTN, long considered the most common genetic cause of DCM.
• Partners included the Broad Institute, the University of Pennsylvania, the US Department of Veterans Affairs and Ohio State University.

Why it matters

The variant is not part of standard cardiomyopathy genetic test panels. “The genetic contributor that matters most to this condition in this population is one that hospitals across the country are not testing for,” said senior author Krishna Aragam. Cleveland Clinic says it plans to add the variant to its own testing.

Limitations

This is an observational genetic association study: it links the variant to higher odds of DCM but does not by itself show how the variant causes disease, and the share of cases attributed to it is a statistical estimate from US cohorts that may differ elsewhere. Most carriers in the study did not have DCM. Details here come from the institution’s press release. People with concerns about heart failure or family history should talk to their doctor.