Article
An African ancestry-specific nonsense variant in CD36 is associated with a higher risk of dilated cardiomyopathy.
Nature genetics - 1 Nov 2025
Huffman Jennifer E, Gaziano Liam, Al Sayed Zeina R, Judy Renae L, Raffield Laura M, Biddinger Kiran J, Charest Brian, Chopra Anant, Gagnon David, Guo Xiuqing, Koledova Vera, Levin Michael G, Min Yuan-I, Pirruccello James P, Reza Nosheen, Ruan Richard, Verma Shefali Setia, Venkatesh Bharath Ambale, Verma Anurag, Yao Jie, Carr John Jeffrey, Casas Juan P, Cho Kelly, Lima Joao A C, Post Wendy S, Rader Daniel J, Ritchie Marylyn D, Shah Amil, Taylor Kent D, Terry James G, Rich Stephen S, O'Donnell Christopher J, Phillips Lawrence S, Lunetta Kathryn L, Rotter Jerome I, Wilson Peter W F, Gaziano J Michael, Damrauer Scott M, Sun Yan V, Ellinor Patrick T, Joseph Jacob, Aragam Krishna G
Abstract excerpt
The high burden of dilated cardiomyopathy (DCM) in individuals of African descent remains incompletely explained. Here, to explore a genetic basis, we conducted a genome-wide association study in 1,802 DCM cases and 93,804 controls of African genetic ancestry (AFR). A nonsense variant ( rs3211938 :G) in CD36 was associated with increased risk of DCM. This variant, believed to be under positive selection due to a...
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