遗传 ›› 2008, Vol. 30 ›› Issue (6): 671-676.doi: 10.3724/SP.J.1005.2008.00671

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脂质代谢相关基因变异在早发冠心病中作用的研究进展

许瑛杰; 王绿娅   

  1. 首都医科大学附属北京安贞医院 北京市心肺血管疾病研究所, 北京 100029

  • 收稿日期:2007-10-19 修回日期:2008-02-28 出版日期:2008-06-10 发布日期:2008-06-10
  • 通讯作者: 王绿娅

Research progress on the association between genetic variations in lipid metabolism and premature coronary artery disease

XU Ying-Jie; WANG Lv-Ya

  

  1. Beijing Institute of Heart Lung and Vascular Diseases, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China
  • Received:2007-10-19 Revised:2008-02-28 Online:2008-06-10 Published:2008-06-10
  • Contact: WANG Lv-Ya

摘要:

最新研究表明, 早发冠心病(pCAD)往往具有较强的遗传背景和脂质代谢紊乱等易感基础, 脂代谢相关基因异常导致各类脂质合成、代谢障碍, 最终血管壁发生动脉粥样硬化, 相关研究多集中在(1) 影响低密度脂蛋白代谢的基因, 如:低密度脂蛋白受体、载脂蛋白B、载脂蛋白E等基因; (2) 影响高密度脂蛋白代谢的基因, 如:ATP 结合盒式转运子、载脂蛋白AI及脂蛋白脂酶基因; (3) 脂联素基因、低密度脂蛋白受体相关蛋白基因等。目前已发现这些脂质代谢基因与pCAD密切相关, 有些基因的突变可造成以pCAD为特征的遗传性疾病。文章对上述基因与pCAD的发生发展进行综述, 以期为冠心病的预防和个体化治疗提供理论依据。

关键词: 基因变异, 脂质代谢, 早发冠心病

Abstract:

Recent research has demonstrated a strong genetic linkage between premature coronary artery disease (pCAD) and dyslipidemia. Genetic variation in lipid metabolism can lead to impediment of lipid anabolism and catabolism, which promotes vascular arterosclerogenesis. Currently, related studies were focused on: (1) Gene mutations related to low density lipoprotein metabolism, such as low density lipoprotein receptor, apolipoprotein B, apolipoprotein E; (2) Gene mutations related to high density lipoprotein metabolism-related genes, such as ATP binding cassette transporter, apolipoprotein A1, lipoprotein lipase; (3) low density lipoprotein receptor-related genes: Adiponectin. These genes had been proved to be cor-related with pCAD. Mutations of these genes can lead to series of genetic disease characterized by pCAD. This review gives a brief summary of the roles of these genes played in the initiation and development of pCAD, providing valuable informa-tion to primer prevention and individualized treatment of CAD.