A population-specific missense variant rs1597000001 in CETP promotes a favorable lipid profile and reduces CETP activity.
Jaye Moors, Mohanraj Krishnan, Nick Sumpter, Riku Takei, Matt Bixley, Murray J. Cadzow, Tanya J. Major, Amanda J. Phipps‐Green, Ruth Topless, Marilyn E. Merriman, Malcolm T. Rutledge, Ben Morgan, Jenna C. Carlson, Jerry Z. Zhang, Emily M. Russell, , Megan Leask
The paper identifies a population-specific missense variant in CETP that lowers CETP activity and improves lipid profile, similar to loss-of-function mutations.
medRxiv · Sep 11, 2021 · PreprintGenetic & Genomic Medicine