Single nucleotide polymorphisms （SNP） of ATP-binding cassette transporter A1 （ABCA1） gene are related to plasma lipid and susceptibility to coronary artery disease （CAD）. Our first goal was to screen all 50 codi...Single nucleotide polymorphisms （SNP） of ATP-binding cassette transporter A1 （ABCA1） gene are related to plasma lipid and susceptibility to coronary artery disease （CAD）. Our first goal was to screen all 50 coding regions of ABCA1 to find new SNPs. Our second goal was to investigate the frequency distribution of R1587K and M883I polymorphisms of ABCA1 gene, which are the variant occurred most frequently, in Chinese people and to evaluate their association with the CAD phenotype and plasma lipids. Methods： Single-strand conformation polymorphism （SSCP） and DNA sequence were used for confirming new SNP of ABCA1, and restriction fragment length polymorphism （RFLP） were applied for confirming genotypes of R1587K and M883I in 112 CAD cases and 108 healthy people. Results： We discovered a new ABCA1 SNP in Chinese population, which converse 233 amino acids from Methionine to Valine （M233V）. This new ABCA1 SNP located in exon7, and might potentially modulate the biological function of lipid metabolism. For R1587K and M883I SNPs, the K allele and I allele frequency was 28.9% and 31.1%, respectively. The K allele at R1587K conferred lower mean values of HDL-C in a dose-dependent manner in both CAD patients and healthy people. However, 883I allele was not associated with plasma lipid level. Neither 1587KK nor 883II associated with increased risk of CAD. Conclusion： Our study finds a potential functional ABCA1 SNPs and revealed K allele of R1587K associated decreased HDL-C level in Chinese population.展开更多
基金Supported by the Natural Scientific Foundation of China (30471929)
文摘Single nucleotide polymorphisms （SNP） of ATP-binding cassette transporter A1 （ABCA1） gene are related to plasma lipid and susceptibility to coronary artery disease （CAD）. Our first goal was to screen all 50 coding regions of ABCA1 to find new SNPs. Our second goal was to investigate the frequency distribution of R1587K and M883I polymorphisms of ABCA1 gene, which are the variant occurred most frequently, in Chinese people and to evaluate their association with the CAD phenotype and plasma lipids. Methods： Single-strand conformation polymorphism （SSCP） and DNA sequence were used for confirming new SNP of ABCA1, and restriction fragment length polymorphism （RFLP） were applied for confirming genotypes of R1587K and M883I in 112 CAD cases and 108 healthy people. Results： We discovered a new ABCA1 SNP in Chinese population, which converse 233 amino acids from Methionine to Valine （M233V）. This new ABCA1 SNP located in exon7, and might potentially modulate the biological function of lipid metabolism. For R1587K and M883I SNPs, the K allele and I allele frequency was 28.9% and 31.1%, respectively. The K allele at R1587K conferred lower mean values of HDL-C in a dose-dependent manner in both CAD patients and healthy people. However, 883I allele was not associated with plasma lipid level. Neither 1587KK nor 883II associated with increased risk of CAD. Conclusion： Our study finds a potential functional ABCA1 SNPs and revealed K allele of R1587K associated decreased HDL-C level in Chinese population.
