APOC3, apolipoprotein C3, 345

N. diseases: 153; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5128
rs5128
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0020557
Disease:
Hypertriglyceridemia
0.010 GeneticVariation BEFREE Logistic regression analysis revealed that rs5072, rs5128 and rs651821 were associated with hypertriglyceridemia, rs5104 and rs651821 were associated with low-HDL cholesterolemia in overall group. rs651821 was associated with hypertriglyceridemia and low-HDL cholesterolemia in both the male and female group. 30631647 2019
dbSNP: rs5128
rs5128
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0242339
Disease:
Dyslipidemias
0.010 GeneticVariation BEFREE Six functional SNPs (<i>APOA1</i> rs5072, <i>APOC3</i> rs5128, <i>APOA4</i> rs5104, <i>APOA5</i> rs651821, <i>ZPR1</i> rs2075294 and <i>BUD13</i> rs10488698) were genotyped using polymerase chain reaction and MALDI-TOF-MS. Logistic regression analysis was performed to explore the relationship of <i>APOA1/C3/A4/A5-ZPR1-BUD13</i> gene cluster gene polymorphisms with dyslipidemia. 30631647 2019
dbSNP: rs121918382
rs121918382
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE Two naturally occurring mutations in apo3 gene, A23T and K58E, reduce TGs and CVD risk. 30306859 2018
dbSNP: rs147210663
rs147210663
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE Here we report a detailed interrogation of the mechanism of TRL lowering by the APOC3 Ala43Thr (A43T) variant, the only missense (rather than protein-truncating) variant in APOC3 reported to be TG lowering and protective against CHD. 28825717 2017
dbSNP: rs2854116
rs2854116
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE By multivariable Cox analysis, concurrent fatty liver (HR 7.27, 95% confidence interval: 1.52-34.76; P = 0.013), age, cirrhosis, and APOC3 rs2854116 TC/CC genotype (HR 3.93, 95% confidence interval: 1.30-11.84; P = 0.013) were independent factors predicting HCC development. 27547913 2017
dbSNP: rs138326449
rs138326449
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE A rare variant in APOC3(rs138326449) has been associated with triglyceride, very low-density lipoprotein, and high-density lipoprotein levels, as well as risk of coronary heart disease. 27114411 2016
dbSNP: rs138326449
rs138326449
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE A rare variant in APOC3(rs138326449) has been associated with triglyceride, very low-density lipoprotein, and high-density lipoprotein levels, as well as risk of coronary heart disease. 27114411 2016
dbSNP: rs138326449
rs138326449
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE A rare variant in APOC3(rs138326449) has been associated with triglyceride, very low-density lipoprotein, and high-density lipoprotein levels, as well as risk of coronary heart disease. 27114411 2016
dbSNP: rs2070666
rs2070666
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0023895
Disease:
Liver diseases
0.010 GeneticVariation BEFREE APOC3 rs2070666 Is Associated with the Hepatic Steatosis Independently of PNPLA3 rs738409 in Chinese Han Patients with Nonalcoholic Fatty Liver Diseases. 27059980 2016
dbSNP: rs2070666
rs2070666
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation 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
dbSNP: rs2070666
rs2070666
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C2711227
Disease:
Steatohepatitis
0.010 GeneticVariation BEFREE The APOC3 rs2070666 A allele was linked to the fourth quartile of the controlled attenuation parameter values (OR 2.769, 95 % CI 1.002-7.651) in 131 subjects, and also linked to the significant histological steatosis (OR 4.986, 95 % CI 1.020-24.371), but neither to liver stiffness measurement values nor to hepatic histological activity and fibrosis in NAFLD patients. 27059980 2016
dbSNP: rs2070666
rs2070666
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.010 GeneticVariation 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
dbSNP: rs2070667
rs2070667
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.010 GeneticVariation BEFREE Among the five SNPs (rs4225, rs4520, rs5128, rs2070666, and rs2070667) in APOC3, only rs2070666 (c.179 + 62 T/A) was significantly different in genotype and allele frequency (both p < 0.01) between groups of NAFLD and control. 27059980 2016
dbSNP: rs4225
rs4225
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE In conclusion, our results provide evidence that the rs4225 in the 3'-UTR of APOC3 might contribute to the risk of CHD by interfering with miR-4271 binding. 27624799 2016
dbSNP: rs5128
rs5128
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE Rs45456595 (CDKN2A, Gly63Arg), rs5128 (APOC3, 3'UTR), and rs72650673 (SH2B3, Glu400Lys) were nominally associated with history of CVD, subclinical CVD, or CVD risk factors (p < 0.010). 24725463 2014
dbSNP: rs2854116
rs2854116
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0524910
Disease:
Hepatitis C, Chronic
0.010 GeneticVariation BEFREE The aim of this study was to evaluate the influence of PNPLA3 p.I148M and APOC3 rs2854116 and rs2854117 polymorphisms on the clinical and histological presentation of chronic hepatitis C in an Italian population and their relationship with viral and anthropometric parameters. 23808989 2013
dbSNP: rs2854117
rs2854117
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0524910
Disease:
Hepatitis C, Chronic
0.010 GeneticVariation BEFREE The aim of this study was to evaluate the influence of PNPLA3 p.I148M and APOC3 rs2854116 and rs2854117 polymorphisms on the clinical and histological presentation of chronic hepatitis C in an Italian population and their relationship with viral and anthropometric parameters. 23808989 2013
dbSNP: rs1261591521
rs1261591521
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0542037
Disease:
Hypotriglyceridemia
0.010 GeneticVariation BEFREE Functional analysis of the missense APOC3 mutation Ala23Thr associated with human hypotriglyceridemia. 20097930 2010
dbSNP: rs2854117
rs2854117
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE We examined whether APOC3 single nucleotide polymorphisms (SNPs) m482 (rs2854117) and 3u386 (rs5128) were related to cognitive measures, whether the associations between cognitive differences and genotype were related to metabolic differences, and how diabetes status affected these associations. 19424489 2009
dbSNP: rs2854117
rs2854117
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE We examined whether APOC3 single nucleotide polymorphisms (SNPs) m482 (rs2854117) and 3u386 (rs5128) were related to cognitive measures, whether the associations between cognitive differences and genotype were related to metabolic differences, and how diabetes status affected these associations. 19424489 2009
dbSNP: rs5128
rs5128
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE We examined whether APOC3 single nucleotide polymorphisms (SNPs) m482 (rs2854117) and 3u386 (rs5128) were related to cognitive measures, whether the associations between cognitive differences and genotype were related to metabolic differences, and how diabetes status affected these associations. 19424489 2009
dbSNP: rs5128
rs5128
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE We examined whether APOC3 single nucleotide polymorphisms (SNPs) m482 (rs2854117) and 3u386 (rs5128) were related to cognitive measures, whether the associations between cognitive differences and genotype were related to metabolic differences, and how diabetes status affected these associations. 19424489 2009
dbSNP: rs121918382
rs121918382
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0342883
Disease:
Cholesteryl Ester Transfer Protein Deficiency
0.010 GeneticVariation BEFREE Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. 2022742 1991
dbSNP: rs2854116
rs2854116
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0948008
Disease:
Ischemic stroke
0.020 GeneticVariation BEFREE Conclusion This study showed that rs670, rs2854116, and rs662799 SNPs of the APOA1-C3-A5 cluster are associated with ischemic stroke</span> in the northern Chinese Han population. 28635360 2017
dbSNP: rs2854116
rs2854116
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C2711227
Disease:
Steatohepatitis
0.020 GeneticVariation BEFREE By multivariable Cox analysis, concurrent fatty liver (HR 7.27, 95% confidence interval: 1.52-34.76; P = 0.013), age, cirrhosis, and APOC3 rs2854116 TC/CC genotype (HR 3.93, 95% confidence interval: 1.30-11.84; P = 0.013) were independent factors predicting HCC development. 27547913 2017