A population-specific missense variant rs1597000001 in CETP promotes a favorable lipid profile and reduces CETP activity.
Moors, J. A.; Krishnan, M.; Sumpter, N.; Takei, R.; Bixley, M.; Cadzow, M.; Major, T. J.; Phipps-Green, A.; Topless, R.; Merriman, M.; Rutledge, M.; Morgan, B.; Carlson, J. C.; Zhang, J. Z.; Russell, E. M.; Sun, G.; Cheng, H.; Weeks, D. E.; Naseri, T.; Reupena, M. S.; Viali, S.; Tuitele, J.; Hawley, N. L.; Dekar, R.; McGarvey, S. T.; de Zoysa, J.; Murphy, R.; Dalbeth, N.; Stamp, L.; Taumoepeau, M.; King, F.; Wilcox, P.; McCormick, S.; Minster, R.; Merriman, T.; Leask, M.
Show 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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