Article
Rare damaging CCR2 variants are associated with lower lifetime cardiovascular risk.
Genome medicine - 21 Mar 2025
Georgakis Marios K, Malik Rainer, Bounkari Omar El, Hasbani Natalie R, Li Jiang, Huffman Jennifer E, Shakt Gabrielle, Tack Reinier W P, Kimball Tamara N, Asare Yaw, Morrison Alanna C, Tsao Noah L, Judy Renae, Mitchell Braxton D, Xu Huichun, Montasser May E, Do Ron, Kenny Eimear E, Loos Ruth J F, Terry James G, Carr John Jeffrey, Bis Joshua C, Psaty Bruce M, Longstreth W T, Young Kendra A, Lutz Sharon M, Cho Michael H, Broome Jai, Khan Alyna T, Wang Fei Fei, Heard-Costa Nancy, Seshadri Sudha, Vasan Ramachandran S, Palmer Nicholette D, Freedman Barry I, Bowden Donald W, Yanek Lisa R, Kral Brian G, Becker Lewis C, Peyser Patricia A, Bielak Lawrence F, Ammous Farah, Carson April P, Hall Michael E, Raffield Laura M, Rich Stephen S, Post Wendy S, Tracy Russel P, Taylor Kent D, Guo Xiuqing, Mahaney Michael C, Curran Joanne E, Blangero John, Clarke Shoa L, Haessler Jeffrey W, Hu Yao, Assimes Themistocles L, Kooperberg Charles, Bernhagen Jürgen, Anderson Christopher D, Damrauer Scott M, Zand Ramin, Rotter Jerome I, de Vries Paul S, Dichgans Martin
Abstract excerpt
BACKGROUND: Previous work has shown a role of CCL2, a key chemokine governing monocyte trafficking, in atherosclerosis. However, it remains unknown whether targeting CCR2, the cognate receptor of CCL2, provides protection against human atherosclerotic cardiovascular disease. METHODS: Computationally predicted damaging or loss-of-function (REVEL > 0.5) variants within CCR2 were detected in whole-exome-sequencing...
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