Role of e2/e3/e4 allelic polymorphism of apoli-poprotein E in regulation of lipid profile in Caucasian population of Eastern Siberia

Abstract

We determined three isoforms of APOEprotein differing by amino acid residues in 112 and 158 positions: aroE2 (112Cys, 158Cys), apoE3 (112Cys, 158Arg) and aroE4 (112Arg, 158Arg). Protein isoforms differed in the degree of effectiveness of protein interaction with the liver cell receptors during cholesterol transport. We studied the prevalence of genotypes and alleles of polymorphic variant ε2/ε3/ε4 of apolipoprotein E gene in a group of healthy Russian adolescents living on a territory of Eastern Siberia (Irkutsk region). 73 healthy Russian adolescents (13-18 years) were included in the study. A biochemical analysis of blood lipids was carried out for each adolescent. We also genotyped the carriage of genotypes and alleles of polymorphic variant ε2/ε3/ε4 of apolipoprotein E gene. In the study the mostfrequently met genotypes were: ε3/ε3 in 57.5 % of cases, the genotype ε2/ε3 -16.4 %, ε3/ε4 -19.2 %, ε2/ε4 - 82.7 %, ε4/ε4 - 4.1 %. APOE gene genotype distribution was consistent with Hardy - Weinberg equilibrium in the studied sample (p = 0.498). The analysis of the allele and genotype distribution of polymorphic variants ε2/ε3/ε4 of APOE gene, and comparison with the previous population-based data showed that the frequency of alleles and genotypes ε2/ε3 ε4 APOE gene in the studied sample of adolescents corresponds to frequencies in the previously studied samples of the Caucasians. Comparison of lipid carriers between genotypes in the studied sample of adolescents showed no connection of genotypes with the level of blood lipid profile.

Keywords

• apolipoprotein e
• genotype
• russian
• lipids
• teenagers