Authors: J. A. Hubáček 3; H. Pistulková 2; Z. Škodová 2; V. Lánská 1; R. Poledne 3 Authors‘ workplace: Centrum experimentální medicíny IKEM, Praha 2Pracoviště preventivní kardiologie IKEM, Praha 3Centrum experimentálního výzkumu chorob srdce a cév, Praha 1 Published in: Čas. Lék. čes. 2003; : 423-426 Category:
Background. High plasma cholesterol is one of the risk factors of atherosclerosis. Both environmental (diet, physicactivity) and genetic factors have been concerned in the development of hypercholesterolemia. Cholesterol 7αhydroxylase (CYP-7A1) is a key enzyme in the bile acid synthesis and it plays an important role in cholesterolcatabolism. The aim of the study was to establish the role of A–204 → C polymorphism in CYP-7A1 gene in plasmalipid determination in children.Methods and Results. Using PCR and restriction analysis (BsaI) we have measured A–204→C polymorphism inCYP-7A1 gene in two groups of children selected from opposite ends of the cholesterol distribution curve of 2000children. Eighty-two children in high - (HCG) and eighty-six children in low - (LCG) cholesterolemic groupsparticipated in the study. No significant difference was found in the frequencies of the genotypes or alleles of theA–204→C polymorphism in the CYP-7A1 gene between HCG and LCG. In HCG, C/C-204 homozygotes have thehighest and A/A homozygotes the lowest levels of LDL-cholesterol (4,21±0,68 mmol/l vers. 3,69±0,60 mmol/l,p
Key words: cholesterol 7α hydroxylase, lipids, polymorphism.
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