Relationship between the R219K Polymorphism of ATP-Binding Cassette Transporter 1 Gene and Coronary Heart Disease

Objective To study the distribution of R219K polymorphism in ATP-Binding Cassette Transporter 1(ABCA1)gene in Chinese Han population and the association of this polymorphism with coronary heart disease(CHD).Methods Genotypes were de- termined by PCR-RFLP approach in 417 unrelated healthy controls and 396 CHD patients.Results The frequencies of K allele and KK genotype for controls(0.465、0.228)were significantly higher than those(0.381、0.162)for patients(P0.05). When the patients were divided into two subgroups by onset-age,the frequencies of K allele and KK genotype for early-onset patients(0.34、0.111)were lower than those(0.419、0.205)for late-onset patients and those for controls(P0.05), while there were no such differences between late-onset patients and controls.Patients with RR genotype had a higher plasma con- centration of triglycerides(TG)when compared with that of KK genotype(P0.05).No significant differences of plasma high- density lipopmtein cholesterol(HDL-C)level were observed among patients with different genotypes.Conclusion These data suggest that the R219K polymorphism in ABCA1 gene was correlated with CHD,and the ABCA1 gene KK genotype may have a ftmction against atherosclerosis without detectable change of plasma HDL-C level in Chinese Han population.