96例冠心病介入治疗患者ABCA1基因启动子区-477C/T单核苷酸多态性分析

目的研究ABCA1基因启动子区-477C／T单核苷酸多态性（SNP）与血浆高密度脂蛋白胆固醇（HDL-C）和冠心病的关系。方法用聚合酶链反应、限制性酶切法（PCR-RFLP）检测96例冠心病患者和100例正常人的ABCA1基因启动子区-477位点基因型，比较基因型在冠心病组与正常人组间、冠心病组中不同病变亚组之间分布的差异性及3种基因型与冠心病相关临床指标的关系。结果冠心病组与正常人组比较，3种基因型CC、CT、TT分布频率差异具有显著性。TT基因型、T等位基因在冠心病组中的分布频率明显高于对照组（P〈0．05、P〈0．01）。冠心病组中，急性冠脉综合征组TT基因型、T等位基因明显高于稳定性心绞痛组（P〈0．05、P〈0．01），多支病变组TT基因型明显高于单支病变组（P〈0．05），TT基因型血浆I-IDL-C水平明显低于CC基因型（P〈0．01）。结论ABCAl基因启动子区-477C／TSNP可显著影响中国冠心病者血浆HDL-C水平，而且与冠心病严重程度相关。

Analysis of -477C/T single nucleotide polymorphism in promoter region of ATP binding cassette transporter A1 (ABCA1) gene in 96 patients with coronary artery disease accepted percutaneous coronary intervention

Objective To evaluate the effect of -477C/T single nucleotide polymorphism (SNP) in promoter region of ABCA1 gene on plasma levels of high density lipoprotein cholesterol (HDL-C) and coronary artery disease (CAD). Methods -477C/T genotypes in promoter region of ABCA1 gene were assessed in 96 CAD patients and 100 healthy individuals with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and distribution of the -477C/T genotypes was compared between CAD group and healthy group, and also between patients with different CAD clinical manifestations. The clinical indexes associated with CAD were also compared among the three genotypes. Results The distributive frequency of CC, CT, or TT genotype of CAD group and healthy group was different from one another, and the proportion of the TT genotype or the T allele was obviously higher in CAD group than in healthy group (P<0.05, P<0.01). Different distributive frequency of CC, CT, or TT genotype was also distinctly found between acute coronary syndrome (ACS) group and stable angina pectoris (SAP) group. The proportion of the TT genotype and that of the T allele was clearly higher in ACS group than in SAP group (P<0.05, P<0.01). The proportion of TT genotype was higher in multi lesions group compared with single lesion group (P<0.05). The HDL-C level of TT genotype was significantly lower compared with that of CC genotype among CAD patients (P<0.01). Conclusion The level of HDL-C and the severity of CAD can be affected by the -477C/T SNP in the promoter region of ABCA1 gene in CAD patients.