Genetics
CETP gene variation explains one-fifth of the variability in plasma CETP levels, but not HDL cholesterol, family study finds (J Lipid Res 1996)
Original title: Allelic variation in the gene encoding the cholesteryl ester transfer protein is associated with variation in the plasma concentrations of cholesteryl ester transfer protein
This study measured plasma CETP concentration and HDL-cholesterol in 694 individuals from 106 nuclear families to examine the effect of common allelic variation at the CETP locus, since the effect of mutations abolishing CETP function on very high HDL-cholesterol was already known but common variation's effect was unclear. Robust sibling-pair methods demonstrated linkage between the CETP locus and inter-individual variation in plasma CETP concentration, with allelic variation at the CETP locus accounting for 20% of CETP concentration variance. No relationship was detected between CETP locus allelic variation and plasma HDL-cholesterol levels. The authors conclude CETP gene polymorphism confers substantial variation in plasma CETP concentration, but this degree of variation in CETP function is not systematically associated with variation in HDL-cholesterol concentration.
Original abstract
The cholesteryl ester transfer protein (CETP) mediates the transfer of cholesteryl esters from high density lipoproteins (HDL) to triglyceride-rich lipoproteins. Mutations that abolish CETP function are associated with very high levels of HDL cholesterol, but the effect of more common allelic variation at this locus is less clear. In this study, we have measured plasma CETP concentration and plasma HDL cholesterol concentrations in 694 individuals from 106 nuclear families. Robust sibling-pair methods indicated linkage between the CETP locus and inter-individual variation in plasma CETP concentrations. Allelic variation at the CETP locus accounted for 20% of the variation in plasma CETP concentration. No relation between allelic variation at the CETP locus and plasma HDL cholesterol levels was detected. These data indicate that polymorphism in the CETP gene confers variation in plasma CETP concentration. However, this degree of variation in CETP function is not systematically associated with variation in plasma HDL-C concentrations.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.