Introduction: Hypercholesterolemia is one of the of the main risk factors of aterosclerosis. The gene for apolipoprotein AII is one of the candidate genes, which could influenced the plasma cholesterol concentration. We studied repeat polymorphism in this gene and searched its possible connection to the cholesterolemia. Patients and Methods: Increased (82 individuals) and decreased (86 individuals) cholesterol blood serum concentration groups were selected from the opposite parts of distribution curve of cholesterolemia of 2.000 ten- or eleven-year old children. (CA)n repeat polymorphism in the apolipoprotein AII gene was determined using polymerase chain reaction, followed with electrophoresis in the polyacrylamide gel. Results: The eleven different alleles (five of them undetected till now) was detected. No significant differences in the frequencies of alleles or genotypes were found between the investigated groups. Inside group with increased concentration of cholesterol, children with allele 5 showed increased apolipoprotein B concentration (p < 0.01) and with allele 8 increased concentration of total and LDL-cholesterol (p < 0.05) as well as triglycerides (p < 0.01) was observed. No such associations were demonstrated in the group with decreased cholesterol serum concentration. Conclusion: (CA)n repeat polymorphism in the gene for apolipoprotein AII is one of the polymorphisms which could participate in the genetic determination of cholesterolemia. In children with increased cholesterol serum concentration the polymorphism determined lipid parameters. In children with decreased cholesterol serum concentration the influence of polymorphism was not detectable. Other factors (environmental or genetic) are necessary for variable effect of repeat polymorphism in the apolipoprotein AII gene.

Keywords: Polymorphism, polymerace chain reaction, lipoprotein metabolism, apolipoprotein AII