APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 AlteredExpression disease BEFREE Abnormalities of lipid metabolism in NS include hypertriglyceridemia and hypercholesterolemia due to elevated apolipoprotein B-containing lipoproteins, decreased lipoprotein lipase and hepatic lipase activity, increased hepatic PCSK9 levels, and reduced hepatic uptake of high-density lipoprotein. 31302760 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE In conclusion, severe hypercholesterolemia associated with increased apolipoprotein B containing lipoproteins affects the epidermal lipid composition and its protective barrier. 30905828 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE Vitamin D supplementation significantly increased total cholesterol, triglycerides, very-low-density lipoprotein (VLDL) triglycerides, low-density lipoprotein (LDL) triglycerides, high-density lipoprotein (HDL) triglycerides, apolipoprotein B (ApoB), LDL-ApoB, ApoCII, ApoCIII, phospholipids, and ApoE (P < .05 for all). 29653812 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE The results indicate a possible underlying contributor to hypercholesterolemia other than PCSK9 in patients with APOB LOFm. 31767518 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE We identified a set of Mendelian variants that co-occur in individuals with BD more frequently than their unaffected family members, including the R3527Q mutation in APOB associated with hypercholesterolemia. 30315151 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE The main aim of this work was to identify and characterize novel alterations in APOB to assess the genetic cause of hypercholesterolemia in patients with a clinical diagnosis of FH. 30270084 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 AlteredExpression disease BEFREE Improvements were also observed in hypercholesterolemia, in which significant decreases in serum total cholesterol, non-high-density lipoprotein (non-HDL) cholesterol, apolipoprotein A-1, and apolipoprotein B levels were observed. 30513715 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE These studies highlight the effectiveness of using iPSCs to screen for potential treatments for inborn errors of hepatic metabolism and suggest that cardiac glycosides could provide an approach for reducing hepatocyte production of apoB and treating hypercholesterolemia. 28388428 2017
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE Alirocumab Treatment and Achievement of Non-High-Density Lipoprotein Cholesterol and Apolipoprotein B Goals in Patients With Hypercholesterolemia: Pooled Results From 10 Phase 3 ODYSSEY Trials. 28862926 2017
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE This study shows the relevance of polymorphisms in APOB (odds ratio (OR), 1.17; 95% confidence interval (95% CI), 0.74-1.85), APOC3 (OR, 1.33; 95% CI, 0.82-2.17) and APOE (OR, 1.75; 95% CI, 1.09-2.80), as genetic risk markers for hypercholesterolemia; polymorphisms in ACE (OR, 1.68; 95% CI, 0.32-8.77) and AGT (OR, 1.74; 95% CI, 0.97-3.14) for hypertension; and in APOE*3/*4 (OR, 2.06; 95% CI, 1.70-2.51) and APOE*4/*4 (OR, 3.08; 95% CI, 1.85-5.12) as unambiguous markers of dementia. 29081697 2017
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE Three mutations were pathogenic (APOB p.R3527Q) or likely pathogenic (LDLR p.C27W, LDLR p.P526S) for hypercholesterolaemia, while the others were either benign or of unknown significance. 27497240 2016
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE Our objective was to determine the frequency of p.Leu167del mutation in APOE gene in subjects with autosomal dominant hypercholesterolemia (ADH) in whom LDLR, APOB, and PCSK9 mutations had been excluded and to identify the mechanisms by which this mutant apo E causes hypercholesterolemia. 27014949 2016
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease GENOMICS_ENGLAND Metaanalysis of the weighted 6-SNP score, on the basis of polymorphisms in CELSR2 (cadherin, EGF LAG 7-pass G-type receptor 2), APOB (apolipoprotein B), ABCG5/8 [ATP-binding cassette, sub-family G (WHITE), member 5/8], LDLR (low density lipoprotein receptor), and APOE (apolipoprotein E) loci, in the independent FH/M- cohorts showed a consistently higher score in comparison to the WHII population (P < 2.2 × 10(-16)). 25414277 2015
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE Mipomersen, an antisense oligonucleotide to apolipoprotein B-100, reduces lipoprotein(a) in various populations with hypercholesterolemia: results of 4 phase III trials. 25614280 2015
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease GENOMICS_ENGLAND Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. 23433573 2013
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE Allele and genotype disease association test revealed that APOB rs693 (OR: 2.2 [1.5-3.2], p=0.0001) and CD36 rs1984112 (OR: 3.7 [1.9-7.0], p=0.0002) SNPs were independent risk factors for hypercholesterolemia. 23247049 2013
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE This employs the personal and family history of premature coronary artery disease and hypercholesterolemia and the presence of a pathogenic mutation in the low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) genes. 22893714 2012
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia. 20506408 2010
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE In this study, a molecular analysis of LDLR and APOB was performed in a group of 378 unrelated ADH patients, to explore the mutation spectrum that causes hypercholesterolemia in Poland. 20145306 2010
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE A total of 100 unrelated children (6 +/-3 years old, 43 boys, 57 girls) with type IIa HC (LDLC >130 mg/dL) and complete genetic testing (at loci for genes for LDLR, apolipoprotein B, proprotein convertase subtilisin-like kesin type 9, and apolipoprotein E) were selected for score elaboration. 19330934 2009
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease LHGDN To seek apolipoprotein B (apoB) gene mutations in children and adolescents presenting to a lipid clinic with hypercholesterolemia and suspected of familial defective apoB (FDB), employing a new automated denaturing high performance liquid chromatography (DHPLC) method. 18222178 2008
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE We have previously shown that rare mutations in the apolipoprotein B gene (APOB) may result in not only severe hypercholesterolemia and ischemic heart disease but also hypocholesterolemia. 18160469 2008
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 AlteredExpression disease BEFREE All three subjects had elevated total cholesterol and LDL cholesterol levels, and high or borderline high plasma apoB levels. 18222178 2008
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE Hypercholesterolemia increases myocardial oxidative and nitrosative stress thereby leading to cardiac dysfunction in apoB-100 transgenic mice. 17658498 2007
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE We performed genetic analysis in 55 patients with clinical features of possible type IIa hypercholesterolemia and 76 normolipemic healthy subjects for mutations and polymorphisms in the low-density lipoprotein (LDL) receptor (LDLR), apolipoprotein B-100 (APOB), apolipoprotein E (APOE), and hepatic lipase (LIPC) genes to elucidate the important genetic factors that can influence cholesterol levels in our population. 18022922 2007