人类APOC3的零突变赋予了有利的血脂质概况和明显的心脏保护
Toni I Pollin1, Coleen M Damcott, Haiqing Shen
1Department of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201, USA. tpollin@medicine.umaryland.edu
概括
由于常见突变而导致的阿波利波蛋白C-III (apoC-III) 的终身缺乏与较低的甘油三,较高的HDL以及降低冠状动脉疾病风险有关. 这表明降低apoC-III水平的心脏保护作用.
科学领域:
- 遗传学 是一个遗传学.
- 心血管疾病 心血管疾病
- 生物化学 生物化学
背景情况:
- 脂蛋白C-III (apoC-III) 是甘油三代谢的一个关键调节剂.
- 升高的apoC-III水平与冠状动脉疾病 (CAD) 的风险增加有关.
研究的目的:
- 研究APOC3基因中常见的零突变对apoC-III水平和心血管风险因素的影响.
- 为了确定终身部分缺陷的apoC-III是否能提供心脏保护.
主要方法:
- 在兰开斯特阿米什人群中进行全基因组关联研究 (GWAS).
- 基因突变携带者与非携带者之间的脂质特征 (甘油三,HDL-C,LDL-C) 和冠状动脉化 (CAC) 的比较.
主要成果:
- 大约5%的兰卡斯特阿米什人是APOC3 R19X无基因突变的异质携带者,导致apoC-III水平降低50%左右.
- 与非携带者相比,突变携带者表现出明显较低的禁食和食后甘油三,较高的HDL胆固醇和较低的LDL胆固醇.
- 携带者通过CAC.测量显示,亚临床动脉样硬化的患病率降低.
结论:
- 由R19X突变引起的终身部分缺少apoc-III与有利的脂质状况有关.
- 这种apoC-III缺乏似乎会产生心脏保护作用,降低动脉样硬化风险.
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