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
1 , 2Hubáček J. A., 1Pistulková H., 1Škodová Z., 1Lánská V., 1 , 2Poledne R.
1Institut klinické a experimentální medicíny, Praha 2Centrum experimentálního výzkumu chorob srdce a cév, Praha
Background. 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 an
important role in plasma cholesterol and triglycerides transport by VLDL particles. The aim of the study was to establish
the 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 APOCI
gene 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 the
study. 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 have
higher lipid level compared to the others (p<0.05). In LCG opposite, but insignificant (p=0.09) trend was observed.
Conclusions. The widespread I/D polymorphism in the gene for APOCI determines the plasma lipid levels in childhood
and it could become another important genetic marker that plays a role in the genetic determination of cholesterolemia.
children, cholesterol, DNA polymorphism, apolipoprotein CI.