ABCA1启动子区基因多态性与血脂水平及冠心病的关系

目的：检测三磷酸腺苷结合盒转运子A1(ATP binding cassette transporter 1,ABCA1)基因启动子-14bp单核酸多态性(single nucleotide polymorphism,SNP) 位点与天津市汉族人群冠心病发生(coronary heart disease,CHD)及血脂水平的关系。方法：采用病例对照研究，聚合酶链反应-限制性片段长度多态性(Polymerase Chain Reaction-Restriction Fragment Length Polymorphism)方法，对228例经冠状动脉造影确诊的冠心病患者和同一地区造影排除冠心病正常对照200例，进行ABCA1基因-14bp位点SNP分析检测，比较不同基因型与血脂水平和冠心病的关系。结果：ABCA1基因-14bp位点多态性有三种：CC、CT和TT型。全部检测人群中CC型占42.99%，CT型占51.64%，TT型占5.31%。冠心病组与对照组中CC、CT、TT三种基因型频率差异无统计学意义（p＞0.05）;冠心病患者与正常人等位基因频率差异无显著性（p＞0.05）；T等位基因携带者HDL-C水平低于非携带者（p＜0.05）。结论：ABCA1基因-14bp位点多态性与冠心病发生无相关性；T等位基因携带者血浆HDL-C水平低下。

Association of Polymorphism in the ATP-Binding Cassette Transporter 1 Gene with Cardiovascular Disease and Plasma Lipids

Objective:To investigate the frequency of variant at-14 bp sites of ATP binding cassette transporter A1(ABCA1)gene and its relation to coronary heart diseases and the serum lipid levels in Chinese population.Methods:The restriction fragment polymorphisms(RFLP) at Bme13901 sites at-14 bp of ABCA1 gene were detected using PCR in 228 patients with coronary heart disease and 200 healthy subjects from the population of Tianjin.The serum levels of total cholesterol(TC) and trigalloyl glycerol(TG)were detected by ...