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: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE Particularly, the variants rs632153, rs633389, rs2187126 and rs1263163 might be risk conferring to dyslipidemia by elevating LDLC and TC levels, while the variants of APOC3 and APOA1 genes might be the genetic determinants of elevated triglycerides in the present population. 28610615 2017
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype BEFREE Therefore, VLDL particles with apoC-III may play a central role in identifying the high risk of coronary heart disease in hypertriglyceridemia, but their substantial prevalence in normolipidemics may be of clinical significance as well. 11483625 2001
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE A novel apolipoprotein C-III variant, apoC-III(Gln38-->Lys), associated with moderate hypertriglyceridemia in a large kindred of Mexican origin. 9323592 1997
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 AlteredExpression phenotype BEFREE We assessed the effects on these complexes of placebo or 100-300 mg volanesorsen, a generation 2.0+ antisense drug that targets apoC3 mRNA in patients with hypertriglyceridemia, including familial chylomicronemia syndrome (n = 3), volanesorsen monotherapy (n = 51), and as add-on to fibrate (n = 26), treated for 85 days and followed for 176 days. 26848137 2016
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype BEFREE Several therapies for regulating TRL metabolism, including inhibitors of diacylglycerol O-acyltransferase and microsomal triglyceride transfer protein, and apoC-III antisense oligonucleotides, merit further investigation in patients with hypertriglyceridaemia. 24060958 2013
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype BEFREE While loss of insulin response is associated with unrestrained apoC-III production and impaired triglyceride metabolism, these data suggest that Foxo1 provides a molecular link between insulin deficiency or resistance and aberrant apoC-III production in the pathogenesis of diabetic hypertriglyceridemia. 15546000 2004
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE We studied apoCIII gene polymorphisms, apolipoprotein E genotypes and lipoprotein-lipase gene mutations in 176 patients with Type II (non-insulin-dependent) diabetes mellitus, either normolipaemic (group N, n = 116), mildly hypertriglyceridaemic (group T, n = 28) or with a history of severe hypertriglyceridaemia (triglyceride > 15 g/l) (group H, n = 32). 11126401 2000
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE The polymorphic sites were the SstI site in the apoCIII 3' untranslated region, whose presence has previously been shown to be associated with hypertriglyceridemia (HTG) in Caucasians, and the MspI site in the third intron of the apoAI gene. 7705829 1995
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE The presence of the ApoC3 CC haplotype was associated with increased triglycerides in patients treated with olanzapine or clozapine. 17726453 2008
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE These results demonstrate that none of the 5' apoCIII polymorphisms can account for the association of the apoCIII gene locus with hypertriglyceridemia and, moreover, owing to linkage disequilibrium, raise the possibility that the region conferring susceptibility maps downstream, rather than upstream, of the apoCIII gene promoter sequences. 8882875 1996
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE In addition, two different variants within the promoter region have been recently suggested to be the mutations of the APOC3 gene leading to hypertriglyceridaemia. 9792993 1998
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype BEFREE We showed that ApoC3-transgenic mice, as opposed to age/sex-matched wild-type littermates, develop hypertriglyceridemia with concomitant elevations in plasma cholesterol and non-esterified fatty acid levels. 27226540 2016
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype BEFREE Unlike the human apo CII (HuCII)- and apo CIII (HuCIII)-transgenic mouse models of hypertriglyceridemia, plasma cholesterol was disproportionately elevated (95 +/- 23 vs 73 +/- 23, P = 0.002, fasted and 90 +/- 24 vs 61 +/- 14, P < 0.0001, fed). 8698877 1996
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE We have recently isolated and characterized the human apo A-I gene and have shown that apo A-I and apolipoprotein C-III (apo C-III) genes are physically linked and that a polymorphism (of unknown frequency in the general population) of the apo A-I gene is inherited as a mendelian trait linked to premature atherosclerosis in an affected family (not the same polymorphism as has previously been reported to be associated with hypertriglyceridaemia). 6314145 1983
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE Several polymorphisms in the apolipoprotein C3 (APOC3) gene have been found association with hypertriglyceridemia(HTG), but the link with coronary heart disease(CHD) risk between ethnicities was still controversial. 22054125 2011
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 AlteredExpression phenotype LHGDN Evidence for a complex relationship between apoA-V and apoC-III in patients with severe hypertriglyceridemia. 16861622 2006
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 AlteredExpression phenotype BEFREE The underlying mechanism may be improved glycaemic control, which leads to reduced expression of apoCIII, a key regulator of hypertriglyceridaemia in hyperglycaemic patients. 30073766 2019
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE Humans with APOC3 gain-of-function mutations and mice with APOC3 overproduction are associated with hypertriglyceridemia. 28115523 2017
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 AlteredExpression phenotype BEFREE Hypertriglyceridemia as a result of human apo CIII gene expression in transgenic mice. 2167514 1990
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE In the first pharmacogenetic study of its kind in HIV-1 disease, we found race/ethnic-specific differences in plasma lipid levels on ART, as well as differences in the influence of the apoC-III gene on the development of PI-related hypertriglyceridemia. 16417409 2006
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype 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: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 AlteredExpression phenotype BEFREE PCSK9 significantly conferred prediction of both hypercholesterolemia and combined hyperlipidemia at a level of 235 ng/ml; apoC3 levels for hypertriglyceridemia, hypercholesterolemia and combined hyperlipidemia were 80.0, 71.5, and 86.4 μg/ml, respectively; and sdLDL-C for hypertriglyceridemia, hypercholesterolemia, combined hyperlipidemia and hypo high density lipoprotein (HDL) cholesterolemia 3.5, 2.5, 4.5, and 2.5 mg/dl, respectively (all p<0.001 for area under the receiver-operating characteristic curve). 27713142 2017
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype BEFREE We show that expression of a mouse apoC-III transgene can also cause hypertriglyceridemia with a similar accumulation of a VLDL-like particle with increased apoC-III and decreased apoE. 8864964 1996
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE Logistic regression analysis of these four SNPs revealed that, carriage of the APOA5 c.56 G allele (odd ratios 4.49) and the APOA5 c.-3 G allele (odds ratio 3.23) were strong independent predictors of hypertriglyceridaemia (P < 0.001), whereas in contrast, carriage of the APOC3 c102 T allele (odds ratio 1.35) and the APOC3 c.340 G allele (odds ratio 1.37), did not show any significant effects that were independent of APOA5. 16125709 2006
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype BEFREE Although ApoCIII transgenic mice have been generated as an animal model for the study of hypertriglyceridemia, the features of lipoprotein metabolism in mice differ greatly from those in humans. 22023023 2012