Genetics
A newly found CETP 3-prime-UTR variant lowers CETP activity by nearly 30 percent, replicated in two independent samples (Atherosclerosis 1996)
Original title: A polymorphic site in the 3' untranslated region of the cholesteryl ester transfer protein (CETP) gene is associated with low CETP activity
This study screened exon 16 of the CETP gene for mutations in 115 men with low HDL-cholesterol who had undergone coronary bypass surgery, compared with a random population sample of 515 subjects. A single G to A substitution at base pair 1696 was found in the 3-prime untranslated region of the CETP gene. Among the low-HDL-cholesterol patients, plasma CETP activity was 29% lower in subjects homozygous for the mutation than in other genotypes (P=0.002), with the same effect replicated in the random population sample (P=0.02). The mutation did not significantly affect plasma lipid or lipoprotein values, though mean HDL-cholesterol tended to be slightly higher and the apoB-lipoprotein-to-HDL-cholesterol ratio slightly lower in homozygotes. The authors conclude this prevalent CETP gene mutation is associated with low plasma CETP activity, supporting the importance of chromosome 16 genes in reverse cholesterol transport and coronary heart disease protection.
Original abstract
The exon 16 of the cholesteryl ester transfer protein (CETP) gene was screened for possible mutations in patients with low plasma high-density lipoprotein cholesterol (HDL-C) levels and established coronary heart disease. 115 men who had undergone coronary bypass surgery were compared with a random population sample of 515 subjects. A single G to A substitution at base pair 1696 was found in the 3' untranslated region of the CETP gene. Among the patients with low HDL-C, the plasma CETP activity was 29% lower (P = 0.002) in the subjects homozygous for the mutation than in those with other genotypes. The same effect was observed in the random population sample (P = 0.02). The mutation did not affect the plasma lipid or lipoprotein values, although the mean HDL-C tended to be slightly higher and the ratio of cholesterol content in the apo B-containing lipoproteins to HDL-C slightly lower in the homozygotes compared with the other genotypes. In conclusion, we describe a prevalent mutation at the CETP gene locus associated with low plasma CETP activity. Our results support previous findings suggesting that the genes in chromosome 16 may be important in the regulation of reverse cholesterol transport and in protection against coronary heart disease.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.