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前蛋白转化酶枯草溶菌素9基因（ PCSK9）是近十年来发现的一种新的致病基因，基因突变主要有功能获得型、功能缺失型，前者通过介导肝脏低密度脂蛋白受体（ LDLR）的降解、减少 LDLR的数量、降低肝脏对LDLR的清除，引起高胆固醇血症，在脂质代谢中发挥着重要作用。血清中低密度脂蛋白胆固醇（ LDL－C）水平与冠心病的发生风险呈正相关，使用他汀类等降脂药物后，大大降低了高胆固醇血症患者的 LDL－C 及冠心病的发病风险，但仍有大部分患者 LDL－C 未达到理想目标。动物实验及临床试验显示，PCSK9抑制剂可大幅度降低各种高胆固醇患者的 LDL－C 水平，给高胆固醇血症患者带来了福音；但其发挥作用的确切机制需进一步研究。“,”Proprotein convertase subtilisin/kexin 9 gene(PCSK9) is a new pathogenic gene discovered over the past decade,and there are mainly two gene mutations:gaining function,losing function,the former regulates liver low-density lipoprotein receptor(LDLR) degradation,to reduce the level of LDLR,and the reduced hepatic clearance of LDLR, causes hypercholesterolemia, which plays an important role in lipid metabolism.Serum low-density lipoprotein cholesterol(LDL-C) concentration and the risk of coronary heart disease are positively correlated,and the use of statins and other lipid-lowering drugs,greatly reduce the level of LDL-C and the risk of coronary heart disease in hypercholesterolemia,though the majority of patients do not achieve the desired LDL-C goal.Animal experiments and clinical trials show that PCSK9 inhibitors can significantly reduce LDL-C concentrations in patients with hypercholesterolemia, benefitting the patients, though the exact mechanism needs further studies.