LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE <b>Background:</b> Mutations in low-density lipoprotein receptor (<i>LDLR</i>) are one of the main causes of familial hypercholesterolemia (FH), which induces atherosclerosis and has a high lifetime risk of cardiovascular disease. 31779484 2020
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 Biomarker group BEFREE Proprotein convertase subtilisin/kexin type-9 (PCSK9), a molecular determinant of low-density lipoprotein (LDL) receptor (LDLR) fate, has emerged as a promising therapeutic target for atherosclerotic cardiovascular diseases. 31419281 2020
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 Biomarker group BEFREE Familial hypercholesterolemia (FH) is the most common hereditary lipid disorder requiring life-long treatment to prevent cardiovascular disease. 31821958 2020
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Inherited abnormalities in apolipoprotein E (ApoE) or low-density lipoprotein receptor (LDLR) function result in early onset cardiovascular disease and death. 30654068 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE To compare the association of triglyceride-lowering variants in the lipoprotein lipase (LPL) gene and LDL-C-lowering variants in the LDL receptor gene (LDLR) with the risk of cardiovascular disease per unit change in ApoB. 30694319 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 Biomarker group BEFREE Given that LDL-C was also reduced in a group of clinically unaffected heterozygotes, we propose that increasing LDL receptor-mediated cholesterol clearance by targeting N-glycosylation in the LDL pathway may represent a novel therapeutic strategy to reduce LDL-C and cardiovascular disease. 31117816 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 Biomarker group BEFREE <b>Background:</b> Familial hypercholesterolemia (FH) greatly facilitates the development of cardiovascular disease (CVD). 30949068 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 Biomarker group BEFREE These findings provide important mechanistic insights as to how hepatic steatosis modulates lipid regulatory genes, including <i>PCSK9</i> and the <i>LDLR</i>, and also highlights a novel mechanism by which liver disease may contribute to CVD. 31004037 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Our studies reveal a novel role of ALDH2 and LDLR in atherosclerosis and provide a molecular mechanism by which ALDH2 rs671 SNP increases CVD. 30375985 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Incidence of Cardiovascular Disease in Patients with Familial Hypercholesterolemia Phenotype: Analysis of 5 Years Follow-Up of Real-World Data from More than 1.5 Million Patients. 31340450 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 Biomarker group BEFREE Statins are effective drugs used to prevent and treat cardiovascular diseases but their effects in the absence of low density lipoprotein receptor (LDLR) and on the risk of diabetes are not yet well characterized. 30508567 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Familial hypercholesterolemia (FH) is characterised by elevated serum levels of low-density lipoprotein cholesterol (LDL-C) and a substantial risk for cardiovascular disease. 31427613 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 AlteredExpression group BEFREE Familial hypercholesterolemia type IIA (FH) is due to mutations in the low-density lipoprotein receptor (LDLR) resulting in elevated levels of low-density lipoprotein cholesterol (LDL-c) in plasma and in premature cardiovascular diseases. 31358055 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 Biomarker group BEFREE Familial hypercholesterolemia (FH) is a hereditary and usually asymptomatic condition characterized by elevated blood cholesterol and increased risk of premature cardiovascular disease. 30606641 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Proprotein convertase subtilisin/kexin type 9 (PCSK9) promotes LDL receptor (LDLR) degradation, increasing plasma levels of LDL cholesterol and the risk of cardiovascular disease. 30617148 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 Biomarker group BEFREE PCSK9 regulates LDL receptor degradation and plays key roles in hypercholesterolemia and related cardiovascular diseases. 31593224 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 Biomarker group BEFREE Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated LDL-C since birth and subsequent premature CVD. 31371270 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 AlteredExpression group BEFREE Indeed, the identification of the low-density lipoprotein (LDL)-receptor and the unraveling of its transcriptional regulation led to the elucidation of familial hypercholesterolemia as well as to the development of statins, the most successful therapeutics for lowering of cholesterol levels and risk of atherosclerotic cardiovascular diseases. 29980055 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Familial hypercholesterolemia (FH) is a common genetic cause of premature cardiovascular disease (CVD). 30050433 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Familial hypercholesterolemia (FH) is mostly caused by low-density lipoprotein receptor (LDLR) mutations and results in an increased risk of early-onset cardiovascular disease due to marked elevation of LDL cholesterol (LDL-C) in blood. 30272645 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Low-density lipoprotein receptor (LDLR) is a key regulator of the metabolism of plasma low-density lipoprotein cholesterol (LDL-C), the elevated levels of which are associated with an increased risk of cardiovascular disease. 30385871 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 AlteredExpression group BEFREE Familial hypercholesterolemia (FH) is a genetic disease associated with persistently elevated levels of low-density lipoprotein cholesterol (LDL-C), which ultimately leads to greatly increased rates of atherosclerosis and cardiovascular disease. 29888156 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 AlteredExpression group BEFREE Hepatic low-density lipoprotein receptor (LDLR) is the primary conduit for the clearance of plasma LDL-cholesterol and increasing its expression represents a central goal for treating cardiovascular disease. 29208426 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 Biomarker group BEFREE Expression of mediators of cholesterol transport, namely the lectin-like oxidized low-density lipoprotein receptor (LOX)-1 and ATP-binding cassette transporter (ABCA)-1, inflammatory markers tumor necrosis factor (TNF)-α and interleukin (IL)-1β/IL-6, nuclear-factor kappa-light-chain-enhancer of activated B cells (NF-κB), intracellular/vascular adhesion molecule(s) (VCAM-1, ICAM-1), and miRNAs (miR-221/-21/-1), associated with cardiovascular disease (CVD), were analyzed in cardiac tissue and coronary vasculature. 30081225 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 Biomarker group BEFREE Familial hypercholesterolemia (FH) is an inherited genetic disorder of lipid metabolism characterized by a high serum LDL-cholesterol profile and xanthoma formation, and FH increases the risk of premature atherosclerosis and cardiovascular disease (CVD). 30415195 2018