Hubacek Jaroslav A
Institute for Clinical and Experimental Medicine and Cardiovascular Research Centre, Prague, Czech Republic.
Clin Chem Lab Med. 2005;43(9):897-902. doi: 10.1515/CCLM.2005.153.
High plasma levels of triglycerides are an independent risk factor for the development of cardiovascular disease. Apolipoprotein A5 (APOA5) is a new member of the apolipoprotein APOA1/C3/A4 gene cluster, found by comparative sequencing analysis. The importance of the APOA5 gene for determination of plasma triglyceride levels has been suggested by the creation of transgenic and knock-out mice (transgenic mice displayed significantly reduced triglycerides, whereas knock-out mice had a high level of triglycerides). It has now been clearly established that distinct polymorphisms in the APOA5 gene consistently influence plasma triglycerides in a wide range of human populations, although some differences between ethnic groups and males and females were described. The possible roles of APOA5 variants in determining the risk of myocardial infarction and coronary artery disease development, as well as in the determination of low-density lipoprotein-particle size or plasma concentrations of C-reactive protein and high-density lipoprotein-cholesterol, are also summarized.
高血浆甘油三酯水平是心血管疾病发生的独立危险因素。载脂蛋白A5（APOA5）是载脂蛋白APOA1/C3/A4基因簇的一个新成员，通过比较测序分析发现。转基因和基因敲除小鼠的研究（转基因小鼠甘油三酯显著降低，而基因敲除小鼠甘油三酯水平升高）提示了APOA5基因在决定血浆甘油三酯水平方面的重要性。现已明确，APOA5基因的不同多态性在广泛的人类群体中持续影响血浆甘油三酯水平，尽管不同种族以及男性和女性之间存在一些差异。本文还总结了APOA5变异体在确定心肌梗死和冠状动脉疾病发生风险、以及在确定低密度脂蛋白颗粒大小或C反应蛋白和高密度脂蛋白胆固醇血浆浓度方面的可能作用。
