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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 GeneticVariation group BEFREE Previous studies on breast carcinomas by Winqvist et al (Cancer Res 55: 2660-2664) have indicated that a survival factor gene is located in band 11q23, and that the highly informative microsatellite polymorphism at the APOC3 locus would be a suitable tool to perform more extensive LOH studies. 10360669 1999
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.010 Biomarker disease BEFREE This study shows the relevance of polymorphisms in APOB (odds ratio (OR), 1.17; 95% confidence interval (95% CI), 0.74-1.85), APOC3 (OR, 1.33; 95% CI, 0.82-2.17) and APOE (OR, 1.75; 95% CI, 1.09-2.80), as genetic risk markers for hypercholesterolemia; polymorphisms in ACE (OR, 1.68; 95% CI, 0.32-8.77) and AGT (OR, 1.74; 95% CI, 0.97-3.14) for hypertension; and in APOE*3/*4 (OR, 2.06; 95% CI, 1.70-2.51) and APOE*4/*4 (OR, 3.08; 95% CI, 1.85-5.12) as unambiguous markers of dementia. 29081697 2017
Premature coronary artery atherosclerosis
0.020 Biomarker phenotype BEFREE These findings indicate that the polymorphism in the region between the apolipoprotein A-I and apolipoprotein C-III genes may be a useful marker for the risk of premature coronary artery disease and familial hypoalphalipoproteinemia. 3081805 1986
Premature coronary artery atherosclerosis
0.020 Biomarker phenotype BEFREE Finally, restriction mapping analysis of DNA from a patient with combined APOA1-APOC3 deficiency and premature coronary artery disease indicated that this patient has a structurally normal APOA4 gene. 3095836 1986
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension
0.010 GeneticVariation phenotype LHGDN The combination of ApoCIII, hepatic lipase and hormono sensitive lipase gene polymorphisms suggests an association with susceptibility to gestational hypertension. 17318300 2007
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension
0.010 GeneticVariation phenotype BEFREE The combination of ApoCIII, hepatic lipase and hormono sensitive lipase gene polymorphisms suggests an association with susceptibility to gestational hypertension. 17318300 2007
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.010 Biomarker disease BEFREE This is the first report of apoC-III hyposialylation in PWS. 20825553 2010
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0202171
Disease: Phosphatidylinositol measurement
Phosphatidylinositol measurement
0.100 GeneticVariation phenotype GWASCAT Genetic architecture of human plasma lipidome and its link to cardiovascular disease. 31551469 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 Biomarker disease BEFREE The most prominent finding among PD adults was an increased appearance of Tf C2 allele and significant mean hypoglycosylation of ApoCIII, besides a C2/e4 positive correlation in PD seniors. 22118861 2012
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.010 Biomarker disease BEFREE An antisense oligonucleotide to apolipoprotein-C3, volanesorsen has been shown to decrease TGs by 70-80% and possibly to reduce rates of pancreatitis admissions. 29842811 2018
CUI: C1257763
Disease: Overnutrition
Overnutrition
0.010 Biomarker phenotype BEFREE We concluded that APOC3, whose dysregulation is liable for hypertriglyceridemia, is not a predisposing factor for linking overnutrition to NAFLD in obesity. 28115523 2017
Ostium secundum atrial septal defect
0.010 GeneticVariation disease BEFREE Three different polymorphisms located in the prothrombin, F2 (20210G/A), and apolipoprotein-C3 (-641A/C and -455T/A) genes were significantly associated with ICVD and PFO. 22784820 2013
CUI: C2712907
Disease: obsolete Combined hyperlipidemia
obsolete Combined hyperlipidemia
0.010 AlteredExpression disease 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: C2936179
Disease: Obesity, Visceral
Obesity, Visceral
0.010 GeneticVariation phenotype BEFREE Visceral obesity modulates the impact of apolipoprotein C3 gene variants on liver fat content. 21829161 2012
CUI: C0028754
Disease: Obesity
Obesity
0.080 Biomarker disease BEFREE APOC3 -482TT genotype is associated with high apoC-III concentrations only in the presence of abdominal obesity or insulin resistance, but not in current smokers who remain lean or insulin-sensitive. 21185820 2011
CUI: C0028754
Disease: Obesity
Obesity
0.080 GeneticVariation disease BEFREE The odds ratios for MI for the APOC3*222 haplotype were 1.72 (95% CI: 1.16, 2.54) and 1.84 (1.31, 2.59) in subjects in the lowest quintiles of abdominal obesity and fasting hyperglycemia, respectively, and were 0.75 (0.54, 1.05) and 1.16 (0.85, 1.59) in subjects in the highest quintiles, respectively (P for interaction <0.05). 18541587 2008
CUI: C0028754
Disease: Obesity
Obesity
0.080 GeneticVariation disease BEFREE Multivariable logistic regression analysis with adjustment for age, sex, and the prevalence of smoking revealed that the -30Gright curved arrow A polymorphism of GCK, the -240Aright curved arrow T polymorphism of ACE, and the -482Cright curved arrow T polymorphism of APOC3 were significantly (P < 0.01) associated with the prevalence of obesity, and the -1989Tright curved arrow G polymorphism of ESR1 was almost significantly associated. 17016614 2006
CUI: C0028754
Disease: Obesity
Obesity
0.080 GeneticVariation disease BEFREE No association was found between the APOC3 (-455T>C) polymorphism and obesity, impaired glucose tolerance, hyperuricemia, hypercholesterolemia, or high levels of low-density lipoprotein cholesterol (LDL) (P > 0.05). 25320541 2014
CUI: C0028754
Disease: Obesity
Obesity
0.080 GeneticVariation disease BEFREE This study aimed to investigate such association between the APOC3 -482C>T polymorphism and cardiometabolic risk factors in the turkish adult risk factor (TARF) study cohort, stratifying by gender and obesity. 22004016 2011
CUI: C0028754
Disease: Obesity
Obesity
0.080 GeneticVariation disease BEFREE In multivariate regression models, the c56C > G SNP, plasma apoCIII, plasma nonesterified fatty acids, hepatic APOA5 transcripts, sex and a weak association with obesity status explained 61% of the variance in apoAV plasma levels. 18537870 2008
CUI: C0028754
Disease: Obesity
Obesity
0.080 GeneticVariation disease BEFREE Results Variant genotypes of polymorphisms -863 C > A and -1031 T > C of the TNFA gene, 455 T > C of the APOC3 gene and the wild type of +276 G > T of the ADIPOQ gene were associated with obesity with odds ratios (OR, 95% confidence interval [CI]) of 2.5 (1.5-4.4), 2.5 (1.5-4.2), 2.0 (1.1-3.6) and 2.5 (1.4-5.0), respectively. 31216264 2019
CUI: C0028754
Disease: Obesity
Obesity
0.080 GeneticVariation disease BEFREE The APOC3 rs2070666 A allele is a risk factor for NAFLD independent of obesity, dyslipidemia, and PNPLA3 rs738409, and it might contribute to increased liver fat content in Chinese Han population. 27059980 2016
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
0.020 GeneticVariation disease BEFREE In FCH the X2 minor allele of the AI-CIII-AIV gene cluster was associated with increased fasting plasma TG, apo CIII, apo AI, and NEFA concentrations and decreased postheparin lipolytic activities. 8100834 1993
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
0.020 GeneticVariation disease BEFREE J. Lipid Res., 1996, 36:136-147) we have studied three restriction enzyme polymorphisms: XmnI, and MspI sites 5' of the apo AI gene and SstI site in the 3' untranslated region of exon 4 of the apo CIII gene in 18 FCH pedigrees, including 18 probands, 178 hyperlipidemic relatives, 210 normolipidemic relatives, and 176 spouses. 9062353 1997