Polymorphism of R219K of ABCA1 gene in patients with coronary artery disease

Objective:To associate the polymorphism of ATP-binding cassette transporter 1 (ABC1,ABCA1) gene with pathogenesis of coronary artery disease (CHD) and its severity.Method:PCR and enzyme mismatch cleavage were used to scan genomic DNA from 222 CHD patients and 278 control subjects in determining genotypes of R219K polymorphism in coding region of ABCA1 gene. The frequencies of diverse genotypes and their association with plasma lipid levels and severity of CHD was studied. Result: The variant frequency in CHD and control subjects were 43.9% and 50.2% (P 0.05) respectively. The homozygous carriers of KK genotype in acute coronary syndrome(ACS) group, stable angina(SA) group and control subjects were 20.0%, 26.9% and 27.7%,respectively.The significant difference was determined between ACS and control subjects, but not between SA and control groups(P 0.05∶P 0.05). The homozygous carriers of mutant-type have lower level of triglyceride[( 1.31± 0.62)∶( 1.56± 0.63)mmol/L;P 0.05]and higher level of high-density lipoprotein[( 1.01± 0.12)∶( 0.96± 0.14) mmol/L,P 0.05]than homozygous carriers of wild-type in CHD patients. Conclusion:The R219K polymorphism of ABCA1 gene are associated with not only plasma lipid levels but also with severity of CHD. Because of high frequency (47%) of K allele, it's population attributable risk may account for 12% CHD cases reduction in the population studied.