Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 GeneticVariation disease BEFREE Huh7 human hepatoma cells were transiently transfected to overexpress the gain-of-function D374Y PCSK9 mutation, which has been associated with severe hypercholesterolemia in humans. 31564372 2020
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE LDL cholesterol (LDL-C) lowering drugs that operate through the inhibition of PCSK9 are being pursued for the management of hypercholesterolemia and reducing its associated atherosclerotic cardiovascular disease (CVD) risk. 30448414 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE PCSK9, through promoting lysosomal degradation of hepatic low-density lipoprotein (LDL) receptor, can decrease the clearance of plasma LDLs, leading to hypercholesterolaemia and consequent atherosclerotic plaque formation. 31236571 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Very recent treatment strategies include the PCSK9 inhibitors for hypercholesterolaemia and the SGLT2 inhibitors for reduction of cardiovascular events in patients with diabetes mellitus and increased cardiovascular risk. 30338502 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Since the discovery of the role of proprotein convertase subtilisin kexin 9 (PCSK9) in the regulation of low-density lipoprotein cholesterol (LDL-C) in 2003, a paradigm shift in the treatment of hypercholesterolaemia has occurred. 30629143 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 AlteredExpression disease BEFREE Inhibition of PCSK9 has proven to be successful in decreasing LDL levels and risk of the development of hypercholesterolemia with its associated higher risk for ASCVD. 30953636 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 GeneticVariation disease BEFREE We propose the following classification: familial hypercholesterolemia syndrome integrated by (1) heterozygous familial hypercholesterolemia: patients with clinically definite FH and a functional mutation in one allele of the LDLR, ApoB:100, and PCSK9 genes; (2) homozygous familial hypercholesterolemia: mutations affect both alleles; (3) polygenic familial hypercholesterolemia: patients with clinically definite FH but no mutations associated with FH are found (to be distinguished from non-familial, multifactorial hypercholesterolemia); (4) familial hypercholesterolemia combined with hypertriglyceridemia: a subgroup of familial combined hyperlipidaemia patients fulfilling clinically definite FH with associated hypertriglyceridemia. 31238171 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 AlteredExpression disease BEFREE Here, we describe a humanized mouse model with liver-specific expression of human PCSK9 and a human-like hypercholesterolemia phenotype, and demonstrate that this mouse can be used to evaluate antibody and gene editing-based (genome and base editing) therapies to modulate the expression of human PCSK9 and reduce cholesterol levels. 30646909 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 AlteredExpression disease BEFREE The PCSK9 inhibitor alirocumab presents a significantly greater reducing effect on the levels of LDL-c compared with EZE, and the different doses of alirocumab exhibited no significant difference in the efficacy of LDL-c for hypercholesterolemia. 30782243 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Our systematic review included randomised controlled trials if they studied PCSK9 inhibitors in patients for primary and/or secondary prevention of cardiovascular diseases or with hypercholesterolaemia/hyperlipidaemia. 30842207 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Thus, PCSK9 inhibitors may also be recommended as promisingly first-line lipid-lowering treatment for patients with hypercholesterolemia, especially for these with statins intolerance or resistance. 30732185 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE In this retrospective study we investigated patients who were treated with PCSK9 inhibitors either because of intolerance of statins or residual hypercholesterolaemia with evidence of cardiac allograft vasculopathy. 30650126 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE This led to FDA removal of the requirement to monitor liver function tests in patients on statin therapy.The combination of statins with other compounds such as ezetimibe or PCSK9 inhibitors has shown some additional benefits in the treatment of hypercholesterolemia. 31773344 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE The results indicate a possible underlying contributor to hypercholesterolemia other than PCSK9 in patients with APOB LOFm. 31767518 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE We conducted a comprehensive search of electronic databases, up to December 1, 2018, for all RCTs comparing PCSK9 inhibition to placebo or ezetimibe in patients with hypercholesterolemia or coronary artery disease receiving maximally tolerated statin for primary or secondary prevention of mortality and cardiovascular outcomes. 31679643 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Anti-PCSK9 agents have been approved for the treatment of hypercholesterolemia. 31227343 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Less is known of the effect of PCSK9 inhibitors on endothelial function of subjects with hypercholesterolemia. 29544724 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE The use of therapeutic monoclonal antibodies to target proprotein convertase subtilisin/kexin type 9 (PCSK9) represents a novel approach to the management of hypercholesteremia and prevention of atherosclerotic cardiovascular disease. 31246589 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE The PCSK9 represents an attractive therapeutic target for hypercholesterolemia treatment and is currently in the spotlight of the scientific community. 30892945 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 GeneticVariation disease BEFREE Patients with heterozygous familial hypercholesterolemia or severe hypercholesterolemia with untreated LDL-C levels ≥220 mg/dL also should experience reasonable or high value from PCSK9 mAbs when LDL-C is ≥100 mg/dL for primary prevention and ≥70 mg/dL for secondary prevention. 31281070 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Evolocumab, an inhibitor of proprotein convertase subtilisin/kexin type 9 (PCSK9), has recently been approved for treatment of hypercholesterolemia. 30875237 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Fully humanized monoclonal antibodies targeting PCSK9 have been approved by the US Food and Drug Administration and the European Medicines Agency as lipid lowering treatment for patients with hypercholesterolemia. 30550765 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Therefore, PCSK9 inhibitors become novel therapeutic approaches in the treatment of hypercholesterolemia. 29692249 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 AlteredExpression disease BEFREE Activation of PCSK9 can thus decrease the expression of LDLR in the liver and inhibit LDL uptake, which leads to hypercholesterolaemia. 28549755 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE L-IFPTA<sup>+</sup> vaccine could generate long-lasting, functional, and safe PCSK9-specific antibodies in C57BL/6 mice with severe atherosclerosis, which was accompanied by long-term therapeutic effect against hypercholesterolemia and atherosclerosis. 31818299 2019