A population-specific missense variant rs1597000001 in CETP promotes a favorable lipid profile and reduces CETP activity.
Jaye Moors, Mohanraj KrishnaniD, Nick Sumpter, Riku TakeiiD, Matt Bixley, Murray J. CadzowiD, Tanya J. MajoriD, Amanda J. Phipps‐GreeniD, Ruth ToplessiD, Marilyn E. Merriman, Malcolm T. RutledgeiD, Ben Morgan, Jenna C. CarlsoniD, Jerry Z. Zhang, Emily M. RusselliD, Guangyun Sun, Hong ChengiD, Daniel E. WeeksiD, Take K. NaseriiD, Muagututi‘a Sefuiva ReupenaiD, Satupaitea VialiiD, John Tuitele, Nicola L. HawleyiD, Ranjan DekaiD, Stephen T. McGarveyiD, , Megan LeaskiD
Abstract
Sequencing of CETP in M[a]ori and Pacific peoples identified a common (MAF [~]2.4%-5.4%) population-specific missense variant (rs1597000001, CETP:c.530C>T p.Pro177Leu) that associates with higher HDL-C levels ([Formula] [95% CI 0.211; 0.260]) and lower LDL-C ([Formula] [95% CI -0.209; -0.058]). In a subsample of the study cohort (n = 11), heterozygous carriers of the population-specific variant had lower plasma CETP activity (P = 0.028). Our study identifies a population-specific missense variant in CETP which lowers CETP activity with an effect on HDL-C that is comparable to Mendelian CETP loss-of-function mutations.
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