Guo Qianyun, Feng Xunxun, Zhou Yujie
Beijing Key Laboratory of Precision Medicine of Coronary Atherosclerotic Disease, Department of Cardiology, Beijing Anzhen Hospital, Clinical Center for Coronary Heart Disease, Beijing Institute of Heart Lung and Blood Vessel Disease, Capital Medical University, Beijing, China.
Front Genet. 2020 Sep 23;11:1020. doi: 10.3389/fgene.2020.01020. eCollection 2020.
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 (), increasing numbers of studies have focused on finding effective diagnostic and therapeutic methods based on . At present, as is one of the main pathogenic FH genes, its contribution to FH deserves more explorative research.
常染色体显性遗传性家族性高胆固醇血症（FH）影响约1/250的个体，并可能导致血液胆固醇升高以及动脉粥样硬化风险显著增加。随着检测方法的改进以及早期诊断和治疗的增加，FH给家庭和社会带来的沉重负担日益明显。由于FH与前蛋白转化酶枯草溶菌素/kexin 9型（PCSK9）密切相关，越来越多的研究致力于基于PCSK9寻找有效的诊断和治疗方法。目前，由于PCSK9是FH的主要致病基因之一，其对FH的作用值得更多探索性研究。
