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Polymorphism in the Regulatory Component of the Gene forCholesterol 7α Hydroxylase in Children with High and Low Cholesterol Levels


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:

Overview

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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Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Pain management Dental Hygienist
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