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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE We therefore investigated whether the LDLR locus interacted with the apolipoprotein E gene genotype on coronary heart disease risk in patients clinically diagnosed with familial hypercholesterolemia with and without LDLR mutation. 22010136 2011
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 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
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE Variation in Coronary Atherosclerosis Severity Related to a Distinct LDL (Low-Density Lipoprotein) Profile: Findings From a Familial Hypercholesterolemia Pig Model. 31554418 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 Biomarker disease CTD_human Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease. 27135400 2016
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 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
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE This result suggests the possibility that genetic variation at the LDL receptor locus or a closely linked locus on chromosome 19 may be responsible for metabolic alterations in ALP pattern B that account for a substantial proportion of the familial predisposition to coronary artery disease in the general population. 1731344 1992
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 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
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 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
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 AlteredExpression disease BEFREE The relation of LDL receptor activity to lipoprotein(a) plasma concentration in patients without coronary artery disease. 8187228 1994
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE The presence of mutant apo B-100 in low-density lipoproteins (LDL) markedly reduces their affinity for the LDL receptor, leading to hypercholesterolaemia and increased proneness to coronary artery disease. 8141833 1993
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 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
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE The effect of LDLR-negative genotype on CT coronary atherosclerosis in asymptomatic statin treated patients with heterozygous familial hypercholesterolemia. 23369702 2013
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARCA4-LDLR gene locus (rs1122608, rs2228671, and rs688) and FVIII coagulant activity (FVIII:c) in subjects with (n = 692) or without (n = 291) angiographically confirmed coronary artery disease (CAD). 20810930 2010
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE The aim of this study was to detect mutations in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in patients of Southeast Asian origin with clinically diagnosed familial hypercholesterolemia (FH) and to relate these findings with the observed lower incidence of coronary heart disease in this part of the world. 11005141 2000
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE The C766T low-density lipoprotein receptor related protein polymorphism and coronary artery disease, plasma lipoproteins, and longevity in the Czech population. 11357934 2001
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 Biomarker disease BEFREE The LDL receptor-related protein (LRP1/A2MR) and coronary atherosclerosis--novel genomic variants and functional consequences. 12402342 2002
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 Biomarker disease BEFREE Role of LDL receptor-related protein (LRP) in coronary atherosclerosis. 14659844 2003
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE Relative contribution of low-density lipoprotein receptor and lipoprotein lipase gene mutations to angiographically assessed coronary artery disease among French Canadians. 9708657 1998
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE Relationships of abdominal obesity and hyperinsulinemia to angiographically assessed coronary artery disease in men with known mutations in the LDL receptor gene. 9521335 1998
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE Pvu II intron 15 polymorphism at the LDL receptor gene is associated with differences in serum lipid concentrations in subjects with low and high risk for coronary artery disease from Brazil. 10699424 2000
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 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
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE Premature coronary heart disease and autosomal dominant hypercholesterolemia: Increased risk in women with LDLR mutations. 26892126 2016
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 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
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 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