| In 1999, mutations in the ATP binding cassette transporter (ABCAl) were firstly identified as the cause of Tangier disease (TD), which characterized by very low plasma levels of HDL-C and apoAl and an increased risk of premature coronary artery disease (CAD). In general population including healthy individuals and patients with CAD, however, the most common patterns of ABCAl gene mutations were single nucleotide polymorphisms (SNPs). ABCAl gene was a limited rate gene that controlled efflux of cellular cholesterol and played an important role in reverse cholesterol transport (RCT) and formation of HDL-C. A number of investigations showed that some of ABCAl gene SNPs related to plasma lipids levels and severity of coronary atherosclerotic lesions in general population including healthy and CAD individuals. In various races, there was different distribution frequency of the same SNPs and there were absolutely different effects of the same SNPs on plasma lipids levels and severity of coronary atherosclerotic lesions. Our study aims at analysis of -477C/T single nucleotide polymorphisms in promoter region of ABCAl gene in the Han healthy and CAD population, and showing distribution frequency of -477C/T SNPs and its effects on plasma lipids in general population and exploring the relations between -477C/T SNPs and plasma lipids level, severity of coronary atherosclerotic lesions in patients with CAD.Individuals in two groups were researched. The control group included 113 healthy individuals (70 males, 43 females). The CAD group included 114 subjects with CAD ( males, 25 females). Genome DNA in white blood cell from venous blood was abstracted by reagent box. By polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), -477C/Tgenotypes in promoter region of ABCAl gene were analyzed in 114 CAD individuals and 102 control individuals and distribution of the -477C/T genotypes was compared between CAD group and control group, and also between different CAD clinical situations. The clinical indexes, which included total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), very low-density lipoprotein cholesterol (VLDL-C) and body mass index (BMI) associated with CAD, were also compared among the three genotypes in CAD and control group.Results have been showed. 1. The -477C/T single nucleotide polymorphisms existed in the healthy Han population of China. Distribution of the -477C/T genotypes were CC 37.2% (42), CT 46.9% (53) and TT 15.9% (18). 2. In control group, 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), and no association between the there genotypes and plasma levels of TC TG LDL-C, VLDL-C and BMI was detected .3. Distribution frequency of the three genotypes in promoter region of ABCAl gene was not different in various age and sex groups in healthy individuals. 4. Distribution frequency of the three genotypes was significantly different in control and CAD group (p<0.05). 5. In CAD group, various distribution frequencies of the -477C/T genotypes between acute coronary syndrome (ACS) group and stable angina pectoris (SAP) group were detected (p<0.05). The proportion of the TT genotype was obviously higher in ACS group than in SAP group and the T allele was more frequent in ACS group than in SAP group (p<0.05, p<0.01). 6. There was an obviously different distribution frequency of the -477C/T genotypes in multi and single coronary artery lesion group (p<0.05). The proportion of the TT genotype in multi coronary artery lesions group was higher than the proportion of the same genotype in single coronary artery lesion group (p<0.05). 7. In CAD group, the plasma level of HDL-C differed significantly between the TT genotypeand the CC genotype (p<0.001), but the plasma levels of TC TG LDL-C VLDL-C and BMI had no differences among the three genotypes.We can reach the following conclusions from the results. 1. The -477...
|
PDF Full Text Request