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 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 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) can lead to premature coronary heart disease. 31248367 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE The percentage of methylation at the specific analyzed segment of LDLR promoter was higher in CHD patients vs healthy subjects (HS) (n = 30) (p = 0.001). 30673762 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 The C308Y mutation in LDL-R results in approximately 70% loss of LDL-R activity, leading to the elevation of low density lipoprotein-cholesterol (LDL-C) and an increased risk of premature coronary heart disease (CHD). 31706281 2019
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 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 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 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 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 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 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 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 Proprotein convertase subtilisin/kexin type 9 (PCSK-9) is a serine protease of the proprotien convertase (PC) family that has profound effects on plasma low density lipoprotein cholesterol (LDL-C) levels, the major risk factor for coronary heart disease (CHD), through its ability to mediate LDL receptor (LDL-R) protein degradation and reduced recycling to the surface of hepatocytes. 28412198 2017
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 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 This study sought to assess the risk of premature CHD in ADH patients with mutations in LDLR (referred to as familial hypercholesterolemia [FH]) vs those without detectable mutations (unexplained ADH), stratified by sex. 26892126 2016
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE The association of LDLR SNP rs6511720 with incidence of CHD and levels of LDL-C was determined by reference to CARDIoGRAM, C4D and Global lipids genetics consortium (GLGC) data. 27973560 2016
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 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is a genetic disorder with an increased risk of early-onset coronary artery disease. 25962062 2015
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.500 GeneticVariation disease BEFREE Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), a disorder characterized by coronary heart disease (CHD) at young age. 24916650 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 GeneticVariation disease BEFREE However, rs2228671-T allele frequency was rare (1%) and was not associated with CHD in Han Chinese (P = 0.49), suggesting an ethnic difference of LDLR rs2228671 polymorphism. 24900971 2014