Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 Biomarker disease BEFREE The History of the WHHL Rabbit, an Animal Model of Familial Hypercholesterolemia (I) - Contribution to the Elucidation of the Pathophysiology of Human Hypercholesterolemia and Coronary Heart Disease. 31748469 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE We concluded that the heterozygosity in LDLR-rs72658855and rs2228671 and T allele in LDLR rs2228671are strongly associated with an increased susceptibility to coronary artery disease. 31613733 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism that mainly occurs due to mutations in the low-density lipoprotein receptor gene and is characterized by increased levels of low-density lipoprotein cholesterol, leading to accelerated atherogenesis and premature coronary heart disease. 31633867 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE Mutations in the LDLR gene lead to a reduced hepatic clearance of LDL as well as a high risk of coronary artery disease (CAD) and sudden cardiac death (SCD). 31731579 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE The proportion of LDLR pathogenic variants was higher in patients with a younger age of coronary artery disease (CAD) onset and significantly decreased as the age of CAD onset increased. 31491741 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) can lead to premature coronary heart disease. 31248367 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE Furthermore, the PRS identified about 6% to 7% of individuals at CAD risk similar to carriers of the LDLR delta >15 kb mutation, consistent with previous estimates. 31184202 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 Biomarker disease BEFREE Familial hypercholesterolemia (FH) is characterized by high prevalence of CAD and major cardiovascular events (MACEs). 31711505 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 Biomarker disease BEFREE Peptide inhibitors designed to block PCSK9-LDLR interactions could reduce the risk of CAD. 31452340 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE We observed that the genes like GALNT2, HMGCR were hypermethylated in the promoter whereas LDLR gene promoter was hypomethylated indicating that intracellular LDL uptake was higher in CAD patients. 31499127 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE Background and Purpose- Familial hypercholesterolemia (FH) is a common autosomal dominant disease leading to increased level of serum LDL (low-density lipoprotein) cholesterol and risk of coronary heart disease. 30580708 2018
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 Biomarker disease BEFREE Our findings provide new insights into LDL biology and show that targeting PCSK9 using heparan sulfate mimetics is a potential therapeutic strategy in coronary artery disease.PCSK9 interacts with LDL receptor, causing its degradation, and consequently reduces the clearance of LDL.Here, Gustafsen et al. show that PCSK9 interacts with heparan sulfate proteoglycans and this binding favors LDLR degradation. 28894089 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE In the patients carrying LDLR mutations and aged ≥ 30 years, the additional PCSK9 V4I variant was linked to a significantly increased prevalence of CAD in accord with the elevation of the LDL-cholesterol level. 27206942 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease GWASCAT Association analyses based on false discovery rate implicate new loci for coronary artery disease. 28714975 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 Biomarker disease CTD_human Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease. 27135400 2016
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE Premature coronary heart disease and autosomal dominant hypercholesterolemia: Increased risk in women with LDLR mutations. 26892126 2016
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE Molecular analysis of the LDLR gene in coronary artery disease patients from the Indian population. 26927322 2016
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE LRP6(R611C) mice on high-fat diet displayed dramatic obstructive CAD and exhibited an accelerated atherosclerotic burden on LDLR knockout background. 26489464 2015