POLYMORFIZMY V GENECH PRO CHOLESTEROLESTER TRANSFEROVÝ PROTEIN, APOLIPOPROTEIN CIIIA LIPOPROTEINOVOU LIPÁZU U DĚTÍ S VYSOKOUA NÍZKOU HLADINOU CHOLESTEROLU.

Common Polymorphisms in the Cholesterol Ester Transfer Protein,Apolipoprotein CIII and Lipoprotein Lipase Genes in High- and Low-Cholesterolemic Children

Apolipoprotein CIII and Lipoprotein Lipase Genes in High- and Low-Cholesterolemic ChildrenBackground. High plasma lipids are one of the risk factor of atherosclerosis. The contribution of environmentaland genetic factors to plasma lipids is roughly equal. Cholesterol ester transfer protein (CETP), lipoprotein lipase(LPL) and apolipoprotein (apo) CIII play an important role in plasma lipid metabolism. The aim of the study wasto establish the role of polymorphisms in these genes in plasma lipid determination.Methods and Results. Using PCR and restriction analysis we have measured Taql polymorphism in CETP,asparagine 291/serine polymorphism in LPL and C3238G polymorphism in apo CIII genes in two groups of childrenselected from opposite ends of the cholesterol distribution curve of 2000 children. 82 children in high- (HCG) and86 in low- (LCG) cholesterol group participated in the study.No significant difference was found in the frequencies of the CETP and apo CIII genotypes between LCG andHCG. In the LCG, significantly more carriers (p < 0.05) of the LPL serine291 allele were found.Conclusions. Common polymorphisms in the CETP and apo CIII genes do not determine the plasma lipid levelsin childhood. The carriers of the rare allele in the LPL gene could be genetically predisposed to low plasma lipidlevels.

Key words:
children, cholesterol, polymorphism, apo CIII, LPL, CETP.