Genetics
CETP deficiency dose-dependently raises HDL2 cholesterol up to sixfold in homozygotes and twofold in heterozygotes (Metabolism 1991)
Original title: Characterization of plasma lipoproteins in patients heterozygous for human plasma cholesteryl ester transfer protein (CETP) deficiency: plasma CETP regulates high-density lipoprotein concentration and composition
CETP activity and mass, lipoprotein and apolipoprotein concentrations, and HDL particle size were compared among 15 CETP-deficiency heterozygotes, 4 homozygotes, and 20 normolipidemic controls. Plasma CETP activity and mass were completely absent in homozygotes and about half of normal in heterozygotes, with activity strongly correlated with mass (r=.95, P less than .001). LDL cholesterol did not differ among the three groups, but HDL2 cholesterol was about twice as high in heterozygotes and sixfold higher in homozygotes than in controls, while HDL3 cholesterol did not differ; the HDL2 to HDL3 ratio was sixfold higher in homozygotes than controls, with heterozygotes intermediate. CETP activity and mass were both strongly negatively correlated with HDL2 cholesterol (r=-.884 and r=-.829, both P less than .001). ApoA-I, apoC-III, and apoE were markedly increased in homozygotes, and HDL particle size measured by HPLC was largest in homozygotes and intermediate in heterozygotes.
Original abstract
To understand the role of human cholesteryl ester transfer protein (CETP) in plasma lipoprotein metabolism, CETP activity and mass levels, lipoprotein and apolipoprotein concentrations, and the size of high-density lipoprotein (HDL) were determined in 15 heterozygotes and compared with those of four homozygotes and 20 normolipidemic controls. Plasma CETP activity and mass were totally deficient in the four homozygotes for CETP deficiency, while heterozygotes had approximately half the level of normals. CETP activity positively correlated with CETP mass levels (r = .95, P less than .001). No significant difference was observed in the level of low-density lipoprotein (LDL)-cholesterol among the three groups. The concentration of HDL2-cholesterol in the heterozygotes was approximately twice as high as that in controls, while that of homozygotes was sixfold higher than that in controls. No significant difference in the HDL3-cholesterol level was observed among the three groups. The HDL2-cholesterol to HDL3-cholesterol ratio of homozygotes was sixfold higher than that of controls, while heterozygotes showed intermediate values between homozygotes and controls. Negative correlations were found between CETP activity and HDL2-cholesterol level (r = -.884, P less than .001) and between CETP mass and HDL2-cholesterol level (r = -.829, P less than .001). Plasma apolipoprotein (apo) A-I, C-III, and E were markedly increased in homozygotes, but the differences between normal and heterozygotes were not statistically significant. The HDL size of homozygotes, determined by high-performance liquid chromatography (HPLC), was large, whereas that of heterozygotes was intermediate between homozygotes and normals.(ABSTRACT TRUNCATED AT 250 WORDS)
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.