Study on the Association between R219K Polymorphism of ATP-binding Cassette Transporter A1 Gene and Coronary Heart Disease in Uygur and Han

Objective To investigate the association between ATP-binding cassette transporter A1(ABCA1) gene polymorphism and coronary heart disease(CHD) in Xinjiang Uygur and Han, as well as the differences of genotypes and alleles distribution between Uygur and Han. Methods A total of 377 unrelated CHD patients and 178 CHD-free controls treated in our hospital between September 2006 and December 2007 were recruited. The CHD group included 199 Uygur patients and 178 Han patients. The control group included 83 Uygur individuals and 95 Han individuals. PCR-restriction fragment length polymorphism was used to detect R219K Polymorphism of ABCA1 genes both in CHD and CHD-free patients. Results The frequency distribution of genotype and allele was not significantly different between patients and controls in two races; the frequency of K allele was signficantly different between Uygur CHD group and the control group.The levels of blood fat in different genotypes of R219K polymorphism were not significantly different between Uygur and Han. Conclusions There is correlation between R219K polymorphism of the ABCA1 gene and CHD in Uygur, and K allele may be a protective factor. R219K polymorphism has not influenced on metabolism of lipoprotein in Uygur and Han.