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 Polymorphic markers in apolipoprotein C-III gene flanking regions and hypertriglyceridemia. 8696957 1996
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE The apoC-III Gln38Lys variant was identified in subjects of Mexican origin with moderate hypertriglyceridemia. 28887372 2017
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 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 The S2 allele genotyped patients had a significantly increased triglyceride level (P < 0.001) and increased triglycerides were observed among both patient and control CC genotype carriers. 19701693 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 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 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 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 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 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 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 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 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 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 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 GeneticVariation phenotype LHGDN APOA1/C3/A5 haplotype and risk of hypertriglyceridemia in Taiwanese. 18206649 2008
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 GeneticVariation phenotype BEFREE Likelihood ratio test showed a strong interaction for increasing risk of early IHD between the presence of ApoC3 and 9p21.3 locus with hypertriglyceridemia (p=0.0008, 0.0011) as well as between 9p21.3 locus and smoking (p=0.0010) after correction for multiple testing. 24656450 2014
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype LHGDN Apolipoprotein C3 SstI polymorphism and triglyceride levels in Asian Indians. 12052247 2002