Abstract
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 on PCSK9. At present, as PCSK9 is one of the main pathogenic FH genes, its contribution to FH deserves more explorative research.
Highlights
Frontiers in GeneticsAutosomal dominant familial hypercholesterolemia (FH) affects approximately 1/250, individuals and potentially leads to elevated blood cholesterol and a significantly increased risk of atherosclerosis
A hereditary propensity for elevated serum levels of low-density lipoprotein cholesterol (LDLC) that leading to cardiovascular disease (CVD) is typical familial hypercholesterolemia (FH) and affects approximately 1 in 250 individuals
From Sanger Sequencing to next-generation sequencing (NGS) Before NGS was widely applied, the genetic diagnosis of FH mainly relied on Sanger sequencing to identify variants in the apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes
Summary
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 on PCSK9. As PCSK9 is one of the main pathogenic FH genes, its contribution to FH deserves more explorative research
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