Single-nucleotide Polymorphisms Of ABCA1 In Hans Population

Objective To study the distribution of the R219K polymorphism in the exon 7 and the-191C/G polymorphism in the promoter region of ATP binding cassette transporter(ABCAl) gene in Hans population and the association with blood lipids and coronary heart disease(CHD).To investigate the relationship between smoking and ABCA1 genotypes.Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to determine R219K and -191C/G 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 frequencecies 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.ABCAl gene R219K and -191C/G polymorphisms were existing in Hans population.The frequency of ABCA1 RK genotype(43.6%) was the highest among ABCA1 genotypes, RR genotype(35.3%), KK genotype(21.1%) and the frequency of ABCA1 promoter region-191C/G genotype were CC genotype(20.1%),GC genotype(54.7%),and GG genotype(25.2%) .In the coronary heart disease group the KK genotype frequency (17.4%) was lower than that in the control(24.2%) and the KK genotype had a higher HDL-C level(P <0.05).The GG genotype frequency in the coronary heart disease group(22.7%) was lower than that in the...