Distributional characteristics of adenosine triphosphate binding cassette transport protein A1 gene R219K polymorphism and association with blood lipid level in healthy Han and Uygur population in Xinjiang

Objective To investigate the distributional characteristics of adenosine triphosphate binding cassette transport protein A1(ABCA1) gene R219K polymorphism and the association with blood lipid level in healthy Han and Uygur population in Xinjiang.Methods A total of 640 Han and 468 Uygur people were examined ABCA1 gene R219K polymorphism with polymerase chain reaction and restriction fragment length polymorphism technique.The allele frequencies and genotypes of Han group were compared with Uygur group.The association of ABCA1 gene R219K polymorphism with blood lipid level was investigated.Results The allele frequencies of ABCA1 gene R219K were 20.5% and 14.3% in KK,51.1% and 51.5% in RK,28.4% and 34.2% in RR,46.0% and 40.1% in K,and 4.0% and 59.9% in R in Han and Uygur population,which showed significant differences(P0.05).The serum high density lipoprotein-cholesterol concentrations were higher and triacylglycerol levels were lower in Uygur and Han population with KK genotype than in those with RR genotype,which showed significant differences(P0.05).Conclusion The frequencies of ABCA1 gene R219K genotypes and alleles in Han population are different from those in Uygur population in Xinjiang.The polymorphism may be associated with level of serum triacylglycerol in Uygur and Han population in Xinjiang.