Association Of ABCA1 Gene R1587K Polymorphism With Lipoprotein Levels And Coronary Heart Disease

Background Coronary heart disease(CHD)is atherosclerotic disease that affects human's health.The important reason is atherosclerosis.Reverse cholesterol transport(RCT)is the key way in regulating the balance of cholesterol and lipid metabolism and the development of atherosclerosis. Epidemiologic study reveals that the relation of HDL-C to CHD is negative correlation.Many factors including heredity and environment affect the level of serum HDL-C.As a kind of integration membrane protein,ATP binding cassette transporter A1(ABCA1)can promote cholesterol and phospholipid efflux.Both cholesterol and phospholipids integrate with apolipoprotein A-I in cell membrane forming HDL.Because ABCA1 contributes to initiation step of RCT and HDL formed,it was considered as the rate limiting factor in HDL metabolism and was named as the keeper of RCT.The disorder of ABCA1 will stop cholesterol efflux resulting in the large amount of cholesterol deposition in macrophage and foam cells formation.Eventually,it promotes the development of the atherosclerosis. Molecular epidemiology studies had shown that the common polymorphism of ABCA1 gene is related with lipoprotein levels and CHD.The extron 35 of ABCA1 exists polymorphism.This extron exists locus 5155 variant of substition of G to C.The present study investigated the relationship between R1587K polymorphism and CHD and whether R1587K polymorphism affects lipoprotein levels.Objective To investigate the association of loci 1587 polymorphisms of ATP binding cassette transporter 1 gene with coronary heart disease and lipoprotein levels.Methods Genotypes were determined by means of Polymerase Chain Reaction-Restriction Fragment Length Polymorphism in 260 patients with CHD and 248 control subjects.Results Three genotypes were shown in the present study.RR,RK and KK genotypes accounted for 76.97%,18.11%and 4.92%respectively.Neither the allele frequencies nor genotypes showed significant different between patients with CHD and control subjects(P＞0.05).The HDL-C level was lower in K allele bearer than in non-K allele bearers.Conclusions The genotypes of ABCA1 R1587K polymorphism were associated with the plasma level of HDL-C.The HDL-C level in K allele carriers was remarkably lower than that in non-K allele carriers.However, there was no significant association of ABCA1 R1587K polymorphism with CHD.