Association between R219K polymorphism of ATP-binding cassette transporter 1 gene in Xinjiang Uygur population and coronary heart disease

Objective:To study the distribution of R219K polymorphism in ATP-binding cassette transporter 1(ABCA1) gene in Xinjiang Uygur population and the association of this polymorphism with coronary heart disease(CHD).Methods:A case-control study was conducted.The genotype and allele frequencies of ABCA1 R219K genetic variation were assayed by polymerase chain reaction-restricted fragments length polymorphism(PCR-RFLP).Results:ABCA1 gene R219K polymorphism was existing in Uygur population,which had three types:RR genotype,RK genotype and KK genotype.Compared with control group,the CHD group had lower KK genotype frequency and lower K allele.There was significant difference between two groups(P0.01,0.05).K allele carriers had a decreased CHD risk(Odds ratio=0.640,95% confidence interval:0.459~0.893).The level of HDL was higher in K allele carriers(KK+RK) than that of RR genotype carriers(P0.05).It was shown sex,total cholesterol,smoke,hypertension and diabetes were independent factors for CHD accidents by Logistic analysis.Conclusion:K allele had an indirect effect on decreased CHD risk in Xinjiang Uygur population by decreasing the level of blood fat,but it seems to be not an independent factor.