ABCA1基因启动子区-477C／T单核苷酸多态性在中国汉族正常人群中的分布及对血脂的影响

Distribution of -477C/T single nucleotide polymorphism in the promoter region of ABCA1 gene and its significance for plasma lipids levels in normal Chinese Han population]

OBJECTIVE: To investigate the distribution of -477C/T single nucleotide polymorphisms (SNP) in the promoter region of ATP binding cassette transporter (ABCA1) gene and its relation to plasma lipid levels in normal Chinese Han population. METHODS: The three genotypes of -477C/T polymorphisms in the promoter region of the ABCA1 gene were detected using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 113 normal Chinese Han subjects. RESULTS: -477C/T SNP was present in normal Chinese Han population, and 37.2% (42) of the examined subjects belonged to the genotype of CC, 46.9% (53) belonged to CT and 15.9% (18) to TT. The individuals with the TT genotype had a lower plasma high-density lipoprotein cholesterol (HDL-C) level than those with the CC genotype (P<0.05). No association was found between the genotypes and plasma levels of total cholesterol, triglyceride, low-density lipoprotein, very low-density lipoprotein and body mass index. CONCLUSION: The TT genotype significantly influences the plasma levels of HDL-C in normal Chinese Han individuals.