The impact of the allelic variant rs2230806 of the АВСА1 gene on phenotypic expression of familial hypercholesterolemia

Abstract

The aim of this work was to evaluate the influence of allelic variant rs2230806 of the АВСА1gene on the phenotype of the familial hypercholesterolemia (plasma lipid and apoprotein levels, the frequency of tendon xanthomas and the risk of coronary heart disease). The study included 92 patients with heterozygous FH according to the British clinical SBR-criteria of the FH. Genotype according to the position rs2230806 of the ABCA1 gene was determined by realtime polymerase chain reaction (PCR) using adjacent samples and melting of reaction products after PCR. The frequency of polymorphism rs2230806 was 57% in our sample of patients with FH. The data obtained by us do not allow us to make a definite conclusion regarding the effect of the studied gene polymorphism on the level of apoA-I-containing plasma lipoproteins. The results of the regression analysis show the protective effect of rs2230806 variant on the development of tendon xanthomas in heterozygous allele carriers (OR 0.16; 95% CI: 0.02–1.0; p=0.035) in the overdominant inheritance model. There was statistically insignificanttrend of reducing the incidence of CHD with increasing number of alleles of the studied polymorphism АВСА1 gene (p=0.37). To confirm this effect it is necessary to conduct studies with inclusion of more patients with FH and coronary artery disease