APOC3, apolipoprotein C3, 345

N. diseases: 153; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency
0.610 CausalMutation disease CLINVAR
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency
0.610 Biomarker disease CTD_human
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency
0.610 GeneticVariation disease BEFREE D25V apolipoprotein C-III is a new human amyloidogenic protein and the first conferring cardioprotection even in the unfavourable context of renal failure, extending the evidence for an important cardiovascular protective role of apolipoprotein C-III deficiency. 26790392 2016
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency
0.610 GeneticVariation disease UNIPROT Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. 2022742 1991
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.460 GeneticVariation disease BEFREE Hypercholesterolemia is associated with the apolipoprotein C-III (APOC3) genotype in children receiving HAART: an eight-year retrospective study. 22848358 2012
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.460 GeneticVariation disease BEFREE Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hyperuricemia revealed that three polymorphisms [994G --> T (Val279Phe) in the platelet-activating factor acetylhydrolase gene, 242C --> T (His72Tyr) in the NADH/NADPH oxidase p22 phox gene, and 1100C --> T in the apolipoprotein C-III gene] were significantly associated with CAD in men with hypercholesterolemia. 14709372 2004
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.460 Biomarker disease GENOMICS_ENGLAND
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.460 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
0.460 Biomarker 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
0.460 Biomarker disease BEFREE About 80 genes are associated with hypercholesterolemia but only pharmaceuticals that inhibit cholesteryl ester transfer protein (CETP), angiopoietin-related protein 3 (ANGPTL3), and apolipoprotein C-III (apoC-III) have recently been tested in clinical trials. 29356705 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.460 Biomarker disease BEFREE Hypercholesterolemics, in contrast, were distinguished from the normolipidemic group by 2-fold higher concentrations of apoB lipoproteins without apoE or apoC-III (E(-)C-III(-)), mainly LDL, which had high cholesterol content. 11483625 2001
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.460 Biomarker disease HPO
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 Biomarker disease BEFREE Apolipoprotein C-III (apoC-III), a small proinflammatory protein present on 6% to 7% of high-density lipoprotein (HDL) particles, defines a subspecies of HDL adversely associated with coronary heart disease in primarily white cohorts. 29540426 2018
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 Biomarker disease BEFREE Relationship of lipoprotein-associated apolipoprotein C-III with lipid variables and coronary artery disease risk: The EPIC-Norfolk prospective population study. 30249512 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE Within the apolipoprotein A-I-C-III-A-IV gene cluster, the Ssti polymorphism in the 3' untranslated region of the apolipoprotein C-III gene is the variant site most consistently and strongly associated with raised plasma triglyceride levels and coronary artery disease. 9211063 1997
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE The multivariate model included 512 men with coronary artery disease from the REGRESS study who were completely genotyped for eight polymorphisms selected in the univariate procedure (ie, APOA1 G(-75)A, ABCA1 C(-477)T, ABCA1 G1051A, APOC3 T3206G, APOE Arg158Cys, LIPC C(-514)T, LPL Asn291Ser and LPL Ser447Stop). 15657615 2005
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE Lack of association between apolipoprotein C3 gene polymorphisms and risk of coronary heart disease in a Han population in East China. 22054125 2011
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE APOC3 polymorphisms were associated with lipid parameters and coronary artery disease in several populations but not all. 17367769 2007
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE ApoC-III gene polymorphisms and risk of coronary artery disease. 12235176 2002
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 AlteredExpression disease BEFREE It is effective in decreasing triglycerides by targeting apoC3 levels in patients with coronary heart disease. 30511426 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 Biomarker disease BEFREE Heterozygous deficiency of APOC3 has been shown to protect against coronary heart disease; we identified APOC3 homozygous pLoF carriers in our cohort. 28406212 2017
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 Biomarker disease BEFREE Sialylated isoforms of apolipoprotein C-III and plasma lipids in subjects with coronary artery disease. 29652662 2018
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE An APOC3 3'UTR variant associated with plasma triglycerides levels and coronary heart disease by creating a functional miR-4271 binding site. 27624799 2016
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 Biomarker disease BEFREE Emerging evidences for the opposite role of apolipoprotein C3 and apolipoprotein A5 in lipid metabolism and coronary artery disease. 31836003 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE Synergistic effects of the apolipoprotein E epsilon3/epsilon2/epsilon4, the cholesteryl ester transfer protein TaqIB, and the apolipoprotein C3 -482 C>T polymorphisms on their association with coronary artery disease. 18289550 2008