Genetics
Homozygous and heterozygous CETP deficiency show graded shifts toward cholesteryl-ester-rich HDL and cholesteryl-ester-poor IDL that track with serum CETP level (Atherosclerosis 1991)
Original title: Serum lipoprotein lipid concentration and composition in homozygous and heterozygous patients with cholesteryl ester transfer protein deficiency
Studying 6 homozygous, 10 heterozygous, and 8 unaffected members of a cholesteryl ester transfer protein (CETP)-deficient family confirmed by gene analysis, serum CETP was undetectable in homozygotes and significantly lower in heterozygotes than unaffected subjects (1.5 +/- 0.1 versus 2.2 +/- 0.5 microgram/ml, P less than 0.01). HDL esterified cholesterol was significantly increased in homozygotes (P less than 0.01), while IDL esterified cholesterol was lower in homozygotes than in normolipidemic controls. The esterified cholesterol to triglyceride ratio was lower than in unaffected subjects in IDL from both homo- and heterozygotes (P less than 0.01 for both) and higher in HDL from homozygotes (P less than 0.01). Serum CETP level correlated positively with IDL esterified cholesterol (r = 0.463), HDL triglyceride (r = 0.603), and VLDL and IDL esterified cholesterol to triglyceride ratio (r = 0.698 and 0.843).
Original abstract
Six homozygous, 10 heterozygous and 8 unaffected subjects in a CETP deficient family confirmed by CETP gene analysis were studied to characterize serum lipoproteins separated by ultracentrifugation, and to examine the relations between CETP levels and lipoprotein lipid concentration and composition. The serum CETP levels were measured by radioimmunoassay using 125I-labeled monoclonal antibodies (TP2). The serum CETP levels in the homozygotes were undetectable and those in the heterozygotes were significantly lower than those in the unaffected subjects (1.5 +/- 0.1 vs. 2.2 +/- 0.5 microgram/ml, P less than 0.01). In the HDL fraction, esterified cholesterol (EC) levels in the homozygotes were significantly increased (P less than 0.01), and those in the heterozygotes were slightly increased (n.s.), in comparison with those in the unaffected and the normolipidemic controls. The EC levels in the IDL fractions were lower in the homozygotes than in the normolipidemic controls. The EC/triglyceride (TG) molar ratios in IDL, the fraction obtained from the homo- and heterozygotes, were lower than those from the unaffected subjects (P less than 0.01 and less than 0.01, respectively), and the EC/TG ratios in the HDL fraction obtained from the homo- and heterozygotes were higher than those from the unaffected subjects (P less than 0.01 and n.s., respectively). Linear regression analysis showed that positive correlates of the serum CETP levels in all subjects were: IDL-EC (r = 0.463), HDL-TG (r = 0.603) and VLDL- and IDL-EC/TG ratio (r = 0.698 and 0.843).(ABSTRACT TRUNCATED AT 250 WORDS)
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.