R451Q mutation in the cholesteryl ester transfer protein (CETP) gene is associated with high plasma CETP activity

Atherosclerosis
S KakkoM J Savolainen

Abstract

Cholesteryl ester transfer protein (CETP), as a candidate gene for dyslipoproteinemia and coronary heart disease, was studied in 105 men with low plasma concentrations of high density lipoprotein cholesterol (HDL-C) and established coronary heart disease as well as in 515 randomly selected men and women. A one-nucleotide substitution (G to A) in exon 15, which changes arginine (451) to glutamine in CETP protein, was detected by PCR-SSCP and direct sequencing and screened in the population sample by a simple PCR-based restriction assay. In the random population sample the allele frequency of the R451Q mutation was 1.9%. Men heterozygous for the R451Q mutation (n = 7) had 27% higher CETP activity than age-, body mass index-, smoking- and alcohol consumption-matched controls with normal genotype (n = 21; P = 0.003). Women heterozygous for the R451Q mutation (n = 7) had 16% lower total cholesterol compared to matched controls (n = 21; P = 0.07), but no such difference was detected in men. In the random population sample the correlation between plasma total cholesterol level and CETP activity was 0.19 (P = 0.044), both in men and women. When women with total cholesterol over 5.2 mmol/l were excluded from analysis, heterozygotes (n =...Continue Reading

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Citations

Jul 17, 1999·Atherosclerosis·O Stein, Y Stein
Dec 9, 2000·Biochimica Et Biophysica Acta·S YamashitaY Matsuzawa
Jan 5, 2000·European Journal of Clinical Investigation·S KakkoM J Savolainen
Dec 19, 2002·European Journal of Clinical Investigation·S KakkoM J Savolainen
Mar 30, 1999·Current Opinion in Lipidology·J D Medh
Dec 18, 2008·Pakistan Journal of Biological Sciences : PJBS·Taghi Hassanzadeh GhasabehMax Paoli
Aug 3, 2012·Journal of Cardiovascular Medicine·Jihène RejebAli Bouslama
Jul 16, 2008·Expert Opinion on Therapeutic Targets·Ekaterini Vourvouhaki, George V Dedoussis
Oct 2, 2013·Journal of Clinical Lipidology·Peter P TothDaniel J Rader
Mar 18, 2003·Journal of Lipid Research·S Matthijs Boekholdt, John F Thompson

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