ASSOCIATION HINDIII POLYMORPHISM
LPL WITH THE FORMATION OF LIPID PROFILE SERUM
E.V. SHAKHTSHNEIDER, Yu.I. RAGINO, Ya.V. POLONSKAYA, E.V. KASHTANOVA, M.I. VOEVODA
Research Institute of Internal and Preventive Medicine of SB RAMS, 630089, Novosibirsk, Boris Bogatkov str., 175/1
Keywords: ген липопротеинлипазы, триглицериды, HindIII полиморфизм, S447X, липиды сыворотки, популяция, lipoprotein lipase gene, triglycerides, HindIII polymorphism, S447X, plasma lipids, population
Abstract
Background and aims: we have analyzed the frequencies of HindIII polymorphism of lipoprotein lipase gene (LPL) and lipid profile in Caucasian population of West Siberia and the groups this high and low total cholesterol (TC) level. Methods: The patients included in the analyses were selected based on TC level from population sample surveyed in frame of HAPIEE project (9360 participants, aged 45-69, men 50 %). Totally 259 patients with highest TC level (>300 mg/dl) and 228 patients with lowest TC level (<200 mg/dl) and 170 randomly selected patients (mean TC level - 235.8±43.9 mg/dl) were included. The differences of TC level between groups are significant. The plasma lipid levels were determined by standard enzymatic assays.The subfractional profile of LDL was determined by method of electrophoresis. The HindIII polymorphism (22125T/G) of LPL gene was analyzed by RELF-PCR. Results: Frequencies of H+H+, H+H- and H-H- genotypes were 61 %, 35 % and 4 % in population. The frequency of H- allele was 0.22, 0.28 and 0.29 in HAPIEE population, low and highest TC level groups, respectively ( p > 0.05). We have found the association of HindIII polymorphism of LPL gene with TG level in HAPIEE population ( p = 0.002). We have found the association of polymorphism HindIII of gene LPL with minor peak on a descending curve of the subfractional profile LDL ( p = 0.02). Depression of activity LPL leads to depression of formation of the fine dense particles rich of cholesterol and the maintenance of the particles rich of triglyceride that can lead to development combined hyperlipidemia. Conclusions: The Caucasian population of West Siberia is not significantly differs from populations of Europe by frequencies of alleles and genotypes. The genotype H+H+ of HindIII polymorphism of LPL gene has been associated with high TG level. The polymorphism HindIII of gene LPL has been associated with the subfractional profile LDL.
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