Journal
FRONTIERS IN GENETICS
Volume 11, Issue -, Pages -Publisher
FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2020.01020
Keywords
gene; genetics; proprotein convertase subtilisin; kexin type 9; familial hypercholesterolemia; variant
Categories
Funding
- National Key Research and Development Program of China [2017YFC0908800]
- Beijing Municipal Administration of Hospital Ascent Plan [DFL20150601]
- Beijing Municipal Administration of Hospital Mission plan [SML20180601]
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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 (PCSK9), increasing numbers of studies have focused on finding effective diagnostic and therapeutic methods based onPCSK9. At present, asPCSK9is one of the main pathogenic FH genes, its contribution to FH deserves more explorative research.
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