中文摘要：

前蛋白转化酶枯草溶菌素9（PCSK9）是近年来新发现的一种与调节胆固醇代谢密切相关蛋白,属前蛋白转化酶家族。PCSK9可通过调节低密度脂蛋白胆固醇（LDLC）水平进而影响冠状动脉粥样硬化性心脏病、外周血管病、脑血管病、神经系统疾病及糖尿病等疾病的风险。近来研究表明,PCSK9基因多态性位点双向调节胆固醇水平。认识这些多态性位点,对于评估疾病严重性、预后或药物治疗反应有重要临床意义。本文就PCSK9基因多态性及其临床研究进展做一综述。

英文摘要：

Proprotein convertase subtilisin/kexin type 9 （PCSK9） is closely related to modulate plasma cholesterol metabolism as newly discovered, and belongs to the proprotein convertase （PC） family. PCSK9 is a protein that reduces risk of coronary artery disease, peripheral vascular disease, cerebrovascular disease, nervous system diseases and diabetes by lowering serum low density lipoprotein cholesterol （LDLC） levels. Recent studies have shown that PCSK9 polymor- phisms may modulate plasma cholesterol levels either positively or negatively. Recognition of these polymorphisms may have clinical significance in assessing severity of disease, prognosis, or response to drug therapy. This review focuses on recent advances of the influence of PCSK9 polymorphisms on LDLC and clinical advance of PCSK9.