天津医药

• 论著 • 上一篇    下一篇

ABCA1启动子区基因多态性与血脂水平及冠心病的关系

程爱娟,毛用敏,崔让庄,吴尚勤,孙姗   

  1. 天津市胸科医院
  • 收稿日期:2011-01-05 修回日期:2011-03-09 出版日期:2011-08-15 发布日期:2011-08-15
  • 通讯作者: 程爱娟

2, 2, 2, 2   

  • Received:2011-01-05 Revised:2011-03-09 Published:2011-08-15 Online:2011-08-15

PDF (PC)

2063

摘要： 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。

关键词: ABCAI, 基因, 单核苷酸多态性, 心血管疾病

Abstract: Objective：To investigate the frequency of variant at-14bp sites of ABCA1 gene and relations to Coronary heart disease and serum lipid levels in Chinese population. Methods：The restriction fragment polymorphisms(RFLP) at Bme13901 sites at -14bp of ABCA1 gene were detected using PCR in 228 Coronary heart disease patients and 200 healthy subjects from a population of Chinese in Tianjin. Results: Both in Coronary heart disease group and Control group, CT genotype was the most frequent one, but no differences were found in two groups. No differences were found in the frequencies of rare T allele for –14bp. In –14bp site, subjects with CT/TT genotype had a lower serum mean concentration of HDL compared with subjects with the genotype CC. Conclusions：These results suggest that the genotypes at -14bp of ABCA1 gene were associated closely with the plasma levels of HDL-c. The HDL-C levels of T allele carriers were remarkably lower. However, there was no significant association of the ABCA1 -14bp polymorphism and the susceptibility to CAD.

Key words: ATP binding cassette transporter A1, polymorphism, coronary disease, hyperlipidemia