M. Tamminen et al., A POLYMORPHIC SITE IN THE 3'-UNTRANSLATED REGION OF THE CHOLESTERYL ESTER TRANSFER PROTEIN (CETP) GENE IS ASSOCIATED WITH LOW CETP ACTIVITY, Atherosclerosis, 124(2), 1996, pp. 237-247
The exon 16 of the cholesteryl ester transfer protein (CETP) gene was
screened for possible mutations in patients with low plasma high-densi
ty lipoprotein cholesterol (HDL-C) levels and established coronary hea
rt disease. 115 men who had undergone coronary bypass surgery were com
pared with a random population sample of 515 subjects. A single G to A
substitution at base pair 1696 was found in the 3' untranslated regio
n 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 obse
rved 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 homoz
ygotes 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 t
he genes in chromosome 16 may be important in the regulation of revers
e cholesterol transport and in protection against coronary heart disea
se.