APOC1, apolipoprotein C1, 341

N. diseases: 95; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE The 'ins/ins' genotype of APOC1 rs11568822 was significantly more frequent in the AD group compared to controls (p = 1.95e-08). 30684189 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Here, we report the identification of AD causal variants in PVRL2 and APOC1 regions in proximity to APOE and define common risk haplotypes independent of APOE-ε4 coding change. 31346172 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE The results of analyses confirmed strong associations of genetic variants from well-known genes APOE, TOMM40, PVRL2 (NECTIN2), and APOC1 with AD. 29107063 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease CTD_human Our analysis identified five most significant AD related SNPs (FDR < 0.05) within or proximal to APOE, APOC1, and TOMM40. 30319691 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease GWASCAT GWAS on family history of Alzheimer's disease. 29777097 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE Genetic variations in apolipoprotein E (APOE) and proximal genes (PVRL2, TOMM40, and APOC1) are associated with cognitive function and dementia, particularly Alzheimer's disease. 29739406 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease CTD_human The results of analyses confirmed strong associations of genetic variants from well-known genes APOE, TOMM40, PVRL2 (NECTIN2), and APOC1 with AD. 29107063 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Both methods' results showed two identical significant SNPs associated with the A β-42 levels in CSF (rs2075650 at intron region TOMM40 with p-value ≥ 1 × 10-16 and rs439401 in the intergenic region of LOC100129500 and APOC1 with p-value ≥ 1 × 10-9) and highlighted APOC1 and TOMM40, which are well-known genes previously associated with AD. 26576771 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE The GWAS analysis revealed significant hits within or proximal to APOE, APOC1, and TOMM40 genes, which were previously implicated in AD. 26421299 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Among these genes, APOE and APOC1 are known AD risk genes. 26621834 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE The APOE, APOC1, and TOMM40 showed significant associations with AD in the single variant analysis. 24685331 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE The APOC1 insertion allele, in combination with APOE ε4, likely serves as a potential risk factor for developing AD. 24498013 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE The haplotypes E*3/-317*ins and E*4/-317*ins of APOE/APOC1 genes were significantly more frequent in the groups with Alzheimer's disease and dementia in general (P < 0.001). 21533863 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE A total of 127 patients with AD and 191 elderly individuals were screened for ApoE and APOC1 polymorphism. 20145290 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 AlteredExpression disease LHGDN In conclusion, human apoC-I expression impairs cognitive functions in mice independent of apoE expression, which supports the potential of a modulatory role for apoC-I during the development of AD. 18160739 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE In conclusion, human apoC-I expression impairs cognitive functions in mice independent of apoE expression, which supports the potential of a modulatory role for apoC-I during the development of AD. 18160739 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Unadjusted, SNP RS4420638 within APOC1 was strongly associated with AD due entirely to linkage disequilibrium with APOE. 17998437 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE No promoter variant in APOE or APOC1 was associated with AD before or after adjusting for age, education, sex, and multiple comparisons. 15364690 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE We found that APOE promoter polymorphisms and APOC1 insertion alleles were significantly associated with AD. 12962909 2003
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease LHGDN Genetic association of an apolipoprotein C-I (APOC1) gene polymorphism with late-onset Alzheimer's disease. 11825674 2002
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 AlteredExpression disease BEFREE In H1/H1 (usually epsilon3/epsilon3) individuals, both apoC-I protein and mRNA were lower in AD. 11741391 2001
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE In addition, APOC1 seems to be an interesting marker because, though in strict linkage disequilibrium with APOE, it seems to play an independent role in AD risk. 10027549 1999