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 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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE Increasing evidence has shown that loss-of-function mutations in APOC3 is associated with reduction in plasma triglycerides levels and will confer a benefit in patients at high risk for cardiovascular disease. 27624799 2016
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE Conclusions HDL particles of larger size and higher concentrations of large HDL and of HDL without apolipoprotein C-III were associated with lower CVD risk, with risk estimates seemingly stronger among participants with lower eGFR. 31818211 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE Therefore, there appears to be a need for effective TG-lowering agents.<b>Areas covered</b>: This review presents the most recent advances in hypertriglyceridemia treatment; specifically, it discusses the results of clinical trials and critically comments on apolipoprotein C-III inhibitors, angiopoietin-like 3 inhibitors, alipogene tiparvovec, pradigastat, pemafibrate and novel formulations of omega-3 fatty acids.<b>Expert opinion</b>: In the era of extreme lowering of LDL-C levels with several agents, there seems to be space for novel therapeutic options to combat parameters responsible for residual CVD risk, among which are elevated TGs. 31738617 2020
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE To explore the potential usefulness of screening for genetic predictors of cardiovascular disease, we surveyed BioVU, the Vanderbilt University Medical Center's biorepository linked to de-identified electronic health records (EHRs), for APOC3 19X mutations among adult European American patients (> 45 and > 55 years of age for men and women, respectively) with the lowest percentile of TG levels. 30255797 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE When put in the context of studies demonstrating significant protection from cardiovascular events in individuals with loss of function variants in the APOC3 gene, our results provide strong evidence that therapies which increase the efficiency of conversion of VLDL to LDL, thereby reducing remnant concentrations, should reduce the risk of cardiovascular disease. 30580564 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE Loss-of-function mutations in APOC3 were associated with low levels of triglycerides and a reduced risk of ischemic cardiovascular disease. 24941082 2014
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE ApoC-III is a critical cardiovascular risk factor, and humans expressing null mutations in apoC-III are robustly protected from cardiovascular disease. 28739253 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE Variation within and around the apolipoprotein C-III (APOC3) gene has been associated with elevated triglyceride (Tg) levels and cardiovascular disease. 11116069 2000
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE Rs45456595 (CDKN2A, Gly63Arg), rs5128 (APOC3, 3'UTR), and rs72650673 (SH2B3, rs72650673;rs1285539239;s72650673;rs370155845" genes_norm="10019;1124;1284">Glu400Lys) were nominally associated with history of CVD, subclinical CVD, or CVD risk factors (p < 0.010). 24725463 2014
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE We examined the association of LpPLA2 activity and ApoC3 LOF mutations and incident cardiovascular disease (CVD) (defined as coronary heart disease [CHD] plus ischemic stroke) and all-cause mortality in the biracial longitudinal Atherosclerosis Risk In Communities (ARIC) study. 26117401 2015
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group LHGDN Serum apoCIII concentration was highly correlated with multiple changes in lipids and lipoproteins that resulted in an adverse cardiovascular disease risk profile. 15375785 2004
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE High plasma concentrations of triglycerides (TG) and apolipoprotein C-III (ApoC-III) are well-known risk factors for cardiovascular disease. 16682041 2007
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 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 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
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE We identified the haplotype S2/C with a significant increased risk (P < 0.001) to coronary artery disease with increased levels of circulating triglycerides compared to other haplotypes in patients. 19701693 2010
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE The -1131 T>C and S19W APOA5 gene polymorphisms are associated with high levels of triglycerides and apolipoprotein C-III, but not with coronary artery disease: an angiographic study. 16682041 2007