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 polymorphisms 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.