AUTHOR=Guo Qianyun , Feng Xunxun , Zhou Yujie 

TITLE=PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis

JOURNAL=Frontiers in Genetics

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.01020

DOI=10.3389/fgene.2020.01020

ISSN=1664-8021

ABSTRACT=<p>Autosomal dominant familial hypercholesterolemia (FH) affects approximately 1/250, individuals and potentially leads to elevated blood cholesterol and a significantly increased risk of atherosclerosis. Along with improvements in detection and the increased early diagnosis and treatment, the serious burden of FH on families and society has become increasingly apparent. Since FH is strongly associated with proprotein convertase subtilisin/kexin type 9 (<italic>PCSK9</italic>), increasing numbers of studies have focused on finding effective diagnostic and therapeutic methods based on <italic>PCSK9</italic>. At present, as <italic>PCSK9</italic> is one of the main pathogenic FH genes, its contribution to FH deserves more explorative research.</p>