Distribution of ABCA1 gene R219K polymorphism in Han and Zhuang populations

AIM: To investigate the distribution of ABCA1 gene R219K polymorphism in the Han and Zhuang populations. METHODS: The polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) technique was used to examine ABCA1 gene R219K polymorphism G→A (Arg219Lys) in 127 unrelated healthy Han persons and 103 unrelated healthy Zhuang individuals. χ2 test was used to compare the genotype and allele frequencies of Chinese population with those of western ethnic populations. RESULTS: The allele frequencies of ABCA1 gene R219K in Han population were as follows: R=0.650, K=0.350; the genotype frequencies were RR=0.425, RK=0.449, KK=0.126. The allele frequencies of Zhuang minority were as follows: R=0.631, K=0.369, and the genotype frequencies were RR=0.427, RK=0.408, KK=0.165. No significant difference was found in the frequencies of ABCA1 gene R219K genotypes and alleles between Han and Zhuang populations in China (P0.05), while there were very significant differences between Chinese population and Germany population (P0.01). CONCLUSION: The frequencies of ABCA1 gene R219K genotypes and alleles in Han population are not different from Zhuang minority in Guangxi Zhuang Autonomous Region of China, but are very different from Hesperian population. The data imply the association of the single nucleotide polymorphism with the lipid metabolism and the susceptibility to coronary atherosclerotic heart disease and can be well useful for the study of population genetics.