Study on Single-nucleotide Polymorphisms of ABCA1 R219K in Han Population

Objective To study the distribution of the R219K polymorphism in the exon 7 of ATP binding cassette transporter(ABCA1) gene in Han population,and to analyze the association between blood lipids and coronary heart disease(CHD).Methods Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method was used to determine R219K locus mutation polymorphisms in ABCA1 gene in 132 CHD patients and 157 controls.The gene polymorphisms were confirmed by sequencing.Automated biochemical analyzer was used to measure the serum total cholesterol(TC),triglyceride(TG),high density lipoprotein cholesterol(HDL-C),low density lipoprotein cholesterol(LDL-C),apolipoprotion AI(apoAI),apolipoprotein B(apoB) and blood sugar.The frequencies of diverse genotypes and their association with plasma lipid levels and CHD were studied.Results The prevalence of the ABCA1 alleles and genotypes in each group were consistent with Hardy-Weinberg equilibrium law.ABCA1 gene R219K polymorphisms were existing in Han population.The frequency of ABCA1 RK genotype(43.6%) was the highest among ABCA1 genotypes,followed by RR genotype(35.3%),KK genotype(21.1%).In coronary heart disease group the KK genotype frequency(17.4%) was lower than that in the controls(24.2%) and the KK genotype had a higher HDL-C level(P0.05).The severity of CHD in KK genotype was lighter than that in RK and RR genotypes(P0.05).Conclusions The results show that there is R219K polymorphism of the ABCA1 gene in Han population.The KK genotype of ABCA1 R219K genetic variation results in a beneficial profile of blood lipids,which may be a novel genetic marker for low risk of coronary heart disease.The severity of CHD in KK genotype is lighter than those in RK and RR genotypes.