Antagonistic Effect of Insertion/Deletion Polymorphism (HpaI)in the Regulatory Part of the Apolipoprotein CI Gene in Children with High and Low Plasma Cholesterol Levels

Authors: J. A. Hubáček 2;  H. Pistulková 1;  Z. Škodová 1;  V. Lánská 1;  R. Poledne 2
Authors‘ workplace: Institut klinické a experimentální medicíny, Praha 2Centrum experimentálního výzkumu chorob srdce a cév, Praha 1
Published in: Čas. Lék. čes. 2004; : 94-96


High plasma lipids are one of the risk factor of atherosclerosis. Both environmental (diet, physic activity)and genetic factors have been implicated in the development of hyperlipidaemia. Apolipoprotein (apo) CI plays animportant role in plasma cholesterol and triglycerides transport by VLDL particles. The aim of the study was to establishthe role of the insertion/deletion polymorphism in apoCI gene in the determination of plasma lipids in children.Methods and Results. Using PCR and restriction analysis (HpaI) we have measured I/D polymorphism in APOCIgene in two groups of children selected from opposite ends of the cholesterol distribution curve of 2000 children.Eighty-two children in high- (HCG) and eighty-six children in low- (LCG) cholesterolemic groups participated on thestudy. No significant difference was found in the frequencies of the APOCI genotypes or alleles between HCG vs.LCG. Association between LDL cholesterol and genotypes within the LCG was found – the D/D homozygotes havehigher lipid level compared to the others (p

Key words:
children, cholesterol, DNA polymorphism, apolipoprotein CI.

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