Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 AlteredExpression disease BEFREE This variation in level of the LDL receptor ligand appears to have predictive value, and may have an etiologic role, in coronary artery disease. 3414686 1988
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 AlteredExpression disease BEFREE We did not observe any significant effect of flaxseed oil supplementation on gene expression levels of low-density lipoprotein receptor (LDLR), IL-8 and transforming growth factor beta (TGF-β) in PBMC of diabetic patients with CHD. 28916975 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 AlteredExpression disease BEFREE Familial hypercholesterolemia (FH) is characterized by inherited high levels of low-density lipoprotein cholesterol (LDL-C) and premature coronary heart disease (CHD). 31106297 2018
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 AlteredExpression disease BEFREE PCSK9 regulates low density lipoprotein receptor (LDLR) levels and consequently is a target for the prevention of atherosclerosis and coronary heart disease. 19001363 2009
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 AlteredExpression disease BEFREE The relation of LDL receptor activity to lipoprotein(a) plasma concentration in patients without coronary artery disease. 8187228 1994
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 Biomarker disease BEFREE We have screened 90 young (< 45 years) eastern Finns with symptomatic coronary heart disease (CHD) for the presence of these FH genes. 8429261 1993
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 Biomarker disease BEFREE The defect function of the LDLR causes familial hypercholesterolemia (FH), the phenotype of which is elevated plasma cholesterol and premature coronary heart disease (CHD). 15459764 2004
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 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 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 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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 Biomarker disease BEFREE Proprotein convertase subtilisin kexin type 9 (PCSK9) promotes the degradation of the low-density lipoprotein (LDL) receptor (LDLR), and its deficiency in humans results in low plasma LDL cholesterol and protection against coronary heart disease. 25070550 2014
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 Biomarker disease BEFREE These data confirm the genetic heterogeneity of LDLR mutations in the UK and the deleterious effect of mutations in exon 3 or 4 of LDLR on receptor function, lipids and severity of coronary heart disease. 16389549 2006
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 Biomarker disease CTD_human Patients with homozygous familial hypercholesterolaemia (HFH) have abnormalities in both low-density lipoprotein (LDL) receptor alleles, resulting in severe hypercholesterolaemia and premature coronary heart disease. 9430375 1997
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 Biomarker disease BEFREE This disease, which is due to mutation in the low density lipoprotein (LDL) receptor gene and results in deficiency of the LDL receptor, is associated with hypercholesterolemia and premature development of coronary heart disease. 12119548 2002
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 Biomarker disease BEFREE Our findings demonstrate that, unlike other rodent animals, the levels of plasma cholesterol in hamsters can be significantly modulated by the intervention of dietary cholesterol, which were closely associated with severity of atherosclerosis in LDLR+/- hamsters, suggesting that the LDLR+/- hamster is an ideal animal model for FH and has great potential in the study of FH and atherosclerosis-related CHD. 31323736 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 Biomarker disease BEFREE To determine the relative frequency of mutations in three different genes (low-density lipoprotein receptor (LDLR), APOB, PCSK9), and to examine their effect in development of coronary heart disease (CHD) in patients with clinically defined definite familial hypercholesterolaemia in UK. 17142622 2006
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 Biomarker disease BEFREE While exposing the polygenic architecture of circulating lipids and the underpinnings of dyslipidaemia, these genome-wide association studies (GWAS) have provided further evidence of the critical role that lipids play in coronary heart disease (CHD) risk, as indicated by the 2.7-fold enrichment for macrophage gene expression in atherosclerotic plaques and the association of 25 loci (such as PCSK9, APOB, ABCG5-G8, KCNK5, LPL, HMGCR, NPC1L1, CETP, TRIB1, ABO, PMAIP1-MC4R, and LDLR) with CHD. 29800275 2018
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 Biomarker disease LHGDN Monounsaturated fatty acyl-coenzyme A is predictive of atherosclerosis in human apoB-100 transgenic, LDLr-/- mice. 17277381 2007
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 Biomarker disease BEFREE Familial hypercholesterolaemia is a co-dominant inherited disorder of lipoprotein metabolism, in which defects in the gene for the low-density-lipoprotein (LDL) receptor result in a twofold increase in the plasma concentration of cholesterol and moderate-to-severe premature coronary heart disease. 17607901 1995
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 Biomarker disease BEFREE Persons with hFH generally manifest elevations of low density lipoprotein (LDL) cholesterol throughout their lives and have a markedly increased risk of death from coronary artery disease. 8105671 1993
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE Increased expression of the low-density lipoprotein receptor (LDLR) is generally considered beneficial for reducing plasma cholesterol and atherosclerosis, and its downregulation has been thought to explain the association between apolipoprotein (apo) E4 and increased risk of coronary heart disease in humans. 12969990 2004
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE Taken together, these findings suggest that the 3'UTR LDLR polymorphisms commonly found in the Chinese population do not cause a predisposition to the development of CHD, nor do they affect the plasma lipid levels or the cholesterol-lowering effect of BBR. 18288382 2008
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE Patients with two abnormal LDL receptor genes (homozygous deficient patients) have severe hypercholesterolemia and life-threatening coronary artery disease in childhood. 1391038 1992