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 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 Biomarker phenotype BEFREE Apolipoprotein C-III has been referred to as an important participant in the metabolism of triglyceride-rich lipoproteins, leading to hypertriglyceridemia and thereafter cardiovascular disease. 27770802 2016
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype BEFREE Apolipoprotein C3 (apoC3) is associated with hypertriglyceridemia and is therefore closely related to CHD. 30511426 2019
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype BEFREE A cross experiment was done to determine the genetic background of hypertriglyceridemia observed in FLS mice. cDNA sequences of apoC-II and apoC-III of FLS mice were determined. 14506831 2003
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 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
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype LHGDN APOA1/C3/A5 haplotype and risk of hypertriglyceridemia in Taiwanese. 18206649 2008
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype BEFREE apoB = apolipoprotein B; apoC-III = apolipoprotein CIII; ASO = antisense oligonucleotide; FCS = familial chylomicronemia syndrome; HTG = hypertriglyceridemia; LPL = lipoprotein lipase; LPLD = lipoprotein lipase deficiency. 30183397 2018
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 AlteredExpression phenotype LHGDN Apolipoprotein C-III isoforms: kinetics and relative implication in lipid metabolism. 16495512 2006
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype LHGDN Apolipoprotein C3 SstI polymorphism and triglyceride levels in Asian Indians. 12052247 2002
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE Common polymorphisms in the promoter of the APOC3 gene have been associated with hypertriglyceridemia and may impact on phenotypic expression of the metabolic syndrome (MetS). 18096054 2007
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE Conversely, two sequence variants in apolipoprotein C3 (APOC3) that have been linked to hypertriglyceridemia (rs2854117 C > T and rs2854116 T > C) have recently been reported to be associated with both hepatic fat content and insulin resistance. 21274868 2011
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype LHGDN Effect of SstI polymorphism of the apolipoprotein CIII gene and environmental factors on risks of hypertriglyceridemia in Taiwan aborigines. 16864937 2006
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 AlteredExpression phenotype BEFREE Elevated apolipoprotein C-III (apoC-III) levels are associated with hypertriglyceridaemia and coronary heart disease. 31329855 2019
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 Biomarker phenotype BEFREE Furthermore, RNAi-mediated ApoC3 inhibition lowered plasma TG concentrations in animals with diet-induced hypertriglyceridemia. 30723097 2019
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype BEFREE Here, we review the pathophysiological role of apoC-III in TG metabolism and the evidence supporting this apolipoprotein as an emerging target for hypertriglyceridemia (HTG) and associated cardiovascular disorders. 26435212 2015
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype BEFREE Higher apoCIII concentrations were associated (P < .0001) with increased triglycerides (r = 0.78), total (r = 0.61) and low-density lipoprotein (LDL) (r = 0.40) cholesterol, apoA-I (r = 0.26), and apoB (r = 0.50), and these relationships persisted after controlling for age, gender, body mass index (BMI), and hemoglobin A1c (HbA1c). 15375785 2004
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype BEFREE Higher apoCIII concentrations were associated (P<.0001) with increased triglycerides (r=.78), total (r=.61) and LDL (r=.40) cholesterol, apoAI (r=.26), and apoB (r=.50), AER (r=.08), and the severity of retinopathy (ETDRS score, r=.11), and these relationships persisted after controlling for age, gender, body mass index (BMI), and HbA1c level. 15642486 2005
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype LHGDN However, when treated with ritonavir, individuals with unfavorable genotypes of APOC3 and [corrected] APOE were at risk of extreme hypertriglyceridemia. 15809899 2005
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 GeneticVariation phenotype BEFREE In 95 healthy Asian Indian men, a group known to have a high prevalence of nonalcoholic fatty liver disease, we genotyped two single-nucleotide polymorphisms (SNPs) in the gene encoding apolipoprotein C3 (APOC3) that are known to be associated with hypertriglyceridemia (rs2854116 [T-455C] and rs2854117 [C-482T]). 20335584 2010
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE In addition, the presence of a polymorphic restriction endonuclease site (SacI) in the 3' noncoding region of apoC-III mRNA has been correlated with hypertriglyceridemia in humans. 2989400 1985
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 In summary, hypertriglyceridemia in HuCIIITg mice appears to result primarily from decreased tissue uptake of triglyceride-rich particles from the circulation, which is most likely due to increased apo CIII and decreased apo E on VLDL particles. the HuCIIITg mouse appears to be a suitable animal model of primary familial hypertriglyceridemia, and these studies suggest a possible mechanism for this common lipoprotein disorder. 1430212 1992