Physiol. Res. 53: 565-568, 2004


The A-204C Polymorphism in the Cholesterol 7α-hydroxylase (CYP7A1) Gene Determines the Cholesterolemia Responsiveness to a High-Fat Diet


Institute for Clinical and Experimental Medicine, Prague, and Center for Experimental Cardiovascular Research, Prague, Czech Republic

Received November 25, 2003
Accepted June 22, 2004

The aim of the study was to ascertain whether the A-204C polymorphism in the cholesterol 7-hydroxylase (CYP7A1) gene plays any role in determining LDL-cholesterol (LDL-C) concentration responsiveness to a high-fat diet. The concentrations of total cholesterol and LDL-cholesterol were measured in eleven healthy men (age: 30.9±3.2 years; BMI: 24.9±2.7 kg/m2) who were homozygous for either the -204A or -204C allele, after 3 weeks on a low-fat (LF) diet and 3 weeks on a high-fat (HF) diet. During both dietary regimens, the isocaloric amount of food was provided to volunteers; LF diet contained 22 % of energy as a fat and 2.2 mg of cholesterol/kg of body weight a day, HF diet 40 % of fat and 9.7 mg of cholesterol/kg of body weight a day. In six subjects homozygous for the -204C allele, the concentrations of cholesterol and LDL-cholesterol were significantly higher on HF than on LF diet (cholesterol: 4.62 vs. 4.00 mmol/l, p<0.05; LDL-C: 2.15 vs. 1.63 mmol/l, p<0.01, respectively); no significant change was observed in five subjects homozygous for the -204A allele. There were no other differences in lipid and lipoprotein-lipid concentrations. Therefore, the polymorphism in the cholesterol 7α-hydroxylase promotor region seems to be involved in the determination of cholesterol and LDL-C responsiveness to a dietary fat challenge.

Key words
LDL-cholesterol • Cholesterol 7α-hydroxylase • Diet responsiveness • Genetics

© 2004 by the Institute of Physiology, Czech Academy of Sciences