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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease LHGDN Adjustment for LDL-C levels by logistic regression or Mendelian Randomisation models abolished the significant association between rs2228671 with CAD completely, indicating a functional link between the genetic variant at the LDLR gene locus, change in LDL-C and risk of CAD. 18714375 2008
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE PCSK9 gain of function mutations cause hypercholesterolaemia by a reduction of LDL receptor levels, while PCSK9 loss of function variants are associated with a reduction of LDL-C values and a decreased risk of coronary heart disease. 18708425 2008
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 Biomarker disease BEFREE LDL receptor, adiponectin, and endocannabinoid receptor-1 genes are independently associated with CAD and T2DM. 25470794 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 Biomarker disease BEFREE We aimed to examine whether the most electronegative subfraction of low-density lipoprotein (LDL), L5, is correlated with QTc prolongation in patients with coronary artery disease (CAD) and investigate the effects of human L5 on the electrophysiological properties of cardiomyocytes in relation to the lectin-like oxidized LDL receptor (LOX-1). 28883612 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 Biomarker disease BEFREE Familial hypercholesterolemia (FH) is a dominantly inherited disorder characterized by markedly elevated plasma low-density lipoprotein cholesterol and premature coronary heart disease. 26275368 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE In this study, we firstly analyzed and found strong relationship between serum ox-HDL levels and risk factors of coronary artery diseases in clinic, then the effects of ox-HDL in initiation and progression of atherosclerosis in LDLR knockout mice were investigated by infusion of ox-HDL dissolved in chitosan hydrogel before the formation of lesions in vivo. 25912129 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 Biomarker disease BEFREE Familial hypercholesterolemia (FH) is characterized by high prevalence of CAD and major cardiovascular events (MACEs). 31711505 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE LDLR rs6511720 is associated with AAA.This finding is consistent with established effects of this variant on coronary artery disease. 24046328 2013
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is associated with an increased risk of premature coronary heart disease. 20964105 2010
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Influence of exonic polymorphisms in the gene for LDL receptor-related protein (LRP) on risk of coronary artery disease. 12732394 2003
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE FH is caused by mutations in the low-density lipoprotein receptor (LDLR) gene and is characterized by raised plasma LDL-cholesterol, tendon xanthomas, and premature coronary heart disease. 10208489 1999
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 Biomarker disease BEFREE Familial hypercholesterolemia (FH) is reportedly associated with the development of coronary artery disease (CAD), especially acute coronary syndrome (ACS). 30968218 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 Biomarker disease BEFREE This study demonstrates the influence of Pvu II polymorphism of the LDLR on serum lipid concentrations of individuals with low and high risk for CAD from Brazil. 10699424 2000
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 Biomarker disease BEFREE Our findings demonstrate that the Ldlr KO hamster is an animal model of choice for human FH and has great potential in translational research of hyperlipidemia and coronary heart disease. 29289533 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE The independent variants at PCSK9, HMGCR, LPA, APOA5 and LDLR were also associated with increased risk of coronary artery disease in the expected direction. 27516387 2016
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated with mutations in the genes LDLR (encoding low-density lipoprotein receptor) or APOB (encoding apolipoprotein B). 12730697 2003
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 Biomarker disease BEFREE Peptide inhibitors designed to block PCSK9-LDLR interactions could reduce the risk of CAD. 31452340 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is an inherited disease of lipoprotein metabolism caused by a defect in the LDL receptor (LDLR) leading to severe hypercholesterolemia, and associated with an increased risk of coronary heart disease and myocardial infarction. 31061510 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Premature coronary heart disease and autosomal dominant hypercholesterolemia: Increased risk in women with LDLR mutations. 26892126 2016
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE CAD association was replicated and/or verified for 4 loci: SORT1 rs611917 (p=1.7 × 10(-8)), APOA5 rs662799 (p=0.0014), LDLR rs1433099 (p=2.1 × 10(-7)), and APOE rs7412 (p=6.1 × 10(-13)). 23050023 2012
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Most affected members of the first and second generation of this family had experienced a first myocardial infarction (MI) before the age of 55 years and most LDLR gene deletion carriers older than 40 years showed severe coronary artery disease (CAD). 12705331 2003
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 AlteredExpression disease BEFREE Moreover, of the 8 sex-biased genes at these loci, 4 have been directly linked to monogenic disorders of lipid metabolism and show an expression profile in females (elevated expression of ABCA1, APOA5 and LDLR; reduced expression of LIPC) that is consistent with the lower female risk of coronary artery disease. 21858147 2011
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE This study suggests that increased risk of CAD in FH is not solely due to elevated LDL cholesterol levels and demonstrates a sex-specific lipoprotein influence on CAD in a large sample of FH patients carrying the same LDL receptor gene defect. 7634440 1995
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Familial Hypercholesterolemia (FH) is a common genetic disorder caused most often by mutations in the Low Density Lipoprotein Receptor gene (LDLr) leading to high blood cholesterol levels, and ultimately to development of premature coronary heart disease. 30413722 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is an autosomal dominant genetic condition causing a high risk of coronary heart disease. 22469073 2012