Lipid metabolism.

摘要

Proprotein convertase subtilisin kexin 9 (PCSK9) variation was identified as a cause of familial hypercholesterolemia by Abifadel et al. in 2003 [1]. Gain-of-function mutations of PCSK9 cause hypercholesterolemia by a reduction in low-density lipoprotein receptor (LDLR) levels, whereas loss-of-function variants are associated with a reduction in LDL-cholesterol (LDL-C) levels and a decreased risk of coronary heart disease (CHD) [2].