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 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
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 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 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 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 Biomarker phenotype BEFREE The variant apo CIII promoter is common in the human population and may represent a major contributing factor to the development of hypertriglyceridemia. 8675624 1995
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE Polymorphic markers in apolipoprotein C-III gene flanking regions and hypertriglyceridemia. 8696957 1996
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 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 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 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 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 GeneticVariation phenotype BEFREE Therefore, although the individual risk of hypertriglyceridemia is increased in women with the haplotype T, C at -482, -455, it appears that the -482, -455 and SstI APOC-III gene polymorphisms are not major contributors to the risk of dyslipidemia in the population of northern France. 10781646 2000
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 AlteredExpression phenotype BEFREE Variation in the expression of apoC-III has been credibly documented to have an important role in hypertriglyceridemia. 11353333 2001
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 AlteredExpression phenotype BEFREE The less common allele (S2) of the SstI polymorphism on the 3' untranslated region of the APOC3 gene has been previously associated with increased triglycerides, total cholesterol (TC), and apoCIII levels and cardiovascular risk on several, but not all, studies. 11500189 2001
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 Several polymorphisms in the apolipoprotein C-III (apoC-III) gene have been associated with hypertriglyceridemia, but the link with coronary artery disease risk is still controversial. 12235176 2002
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE Recently identified polymorphisms in the apoC3 (T-455C, C-482T), and cholesteryl ester transfer protein (CETP) (B1/B2 allele) genes are associated with increased triglycerides and reduced high-density lipoprotein (HDL)-levels, a feature now also common among Asian Indians. 12476935 2002
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 Various population studies have reported the association of rare S2 allele of apolipoprotein C3 (APOC3) SstI polymorphism with hypertriglyceridemia (HTG) and coronary artery disease (CAD). 15124908 2004
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 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 assessed, in the Quebec City population, the allele frequency and haplotype distributions of mutations in genes related to HTG, such as the apolipoprotein E (APOE) (C112R and C158R), the apolipoprotein CIII (APOC3) (C-482T and C3238G) and the peroxisome proliferator-activated receptor alpha (PPARalpha) (L162V) genes. 15549499 2004