rs429358, APOE

N. diseases: 66
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.890 GeneticVariation GWASCAT Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. 30636644 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.890 GeneticVariation GWASCAT Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project. 31473137 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.890 GeneticVariation GWASCAT Genetic heterogeneity of Alzheimer's disease in subjects with and without hypertension. 31055733 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.890 GeneticVariation BEFREE There was no interaction between rs9331896 in CLU and rs429358 (defining the ɛ4 allele) in APOE in predicting Alzheimer's disease or all dementia (P = 0.39 and P = 0.21). 29534716 2018
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.890 GeneticVariation BEFREE APOE gene comprises of three alleles determined by two single nucleotide polymorphisms (rs429358 and rs7412) resulting in the protein isoforms, among which ApoE4 is a confirmed risk factor for Alzheimer's Disease. 29776682 2018
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.890 GeneticVariation BEFREE We applied our proposed method to explore the relation between the well-known AD risk SNP APOE rs429358 and three baseline brain imaging modalities (i.e., structural magnetic resonance imaging (MRI), fluorodeoxyglucose positron emission tomography (FDG-PET) and F-18 florbetapir PET scans amyloid imaging (AV45)) from the Alzheimer's Disease Neuroimaging Initiative (ADNI) database. 27277494 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.890 GeneticVariation BEFREE Subsequently, to evaluate comprehensively the APOE (apolipoprotein E) haplotype variants (E1/E2/E3/E4), the markers rs7412 and rs429358 were genotyped in 93 AD affected carriers of the E280A mutation. 26619808 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.890 GeneticVariation BEFREE The APOE rs429358 variation significantly influenced the brain network characteristics, affecting the activation of nodes as well as the connectivity of edges in aMCI subjects.The cholesterol metabolism pathway gene-based imaging genetics approach may provide new opportunities to understand the mechanisms underlying AD and suggested that APOE rs429358 is a core genetic variation that is associated with disease-related differences in brain function. 26985771 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.890 GeneticVariation BEFREE Three SNPs [rs429358 in APOE: odds ratio (OR)=4.24, 95% confidence interval (CI)=3.01-5.96, P=1.23×10; rs2075650 in APOE: OR=3.57, 95% CI=2.51-5.06, P=1.23×10; and rs677909 in PICALM: OR=0.63, 95% CI=0.49-0.81, P=0.00036, log additive model] were significantly associated with AD susceptibility after correction for multiple testing. 22975751 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.890 GeneticVariation GWASCAT APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. 23419831 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.890 GeneticVariation GWASCAT SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline in Alzheimer's disease. 25027320 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.890 GeneticVariation GWASCAT Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. 21123754 2011
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.890 GeneticVariation BEFREE Apolipoprotein E (APOE) genotype (ε2/ε3/ε4: rs429358 ε4 allele; rs7412 ε2 allele) is strongly associated with both lipid levels and Alzheimer's disease. 21215387 2011
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.890 GeneticVariation BEFREE ApoE single nucleotide polymorphisms (SNPs) Cys112Arg (Epsilon-4), and Arg158Cys (Epsilon-2) have been implicated in cardiovascular and Alzheimer's disease, but their role in colorectal cancer (CRC) has not been extensively studied. 19455140 2009
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.890 GeneticVariation BEFREE Here, we evaluate whether synthetic RNA/DNA oligonucleotides (chimeraplasts) can convert a dysfunctional gene, APOE4 (C, A and E, T, Cys112Arg), a risk factor for Alzheimer's disease and other neurological disorders, into wild-type APOE3. 15781970 2005
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.890 GeneticVariation CLINVAR
ALZHEIMER DISEASE 2
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
0.800 CausalMutation CLINVAR
ALZHEIMER DISEASE 2
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
0.800 GeneticVariation UNIPROT
Hyperlipoproteinemia Type III
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
0.730 GeneticVariation BEFREE None of the family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) and/or APOE*2(Val-236-->Glu) exhibited lipoprotein abnormalities characteristic of familial dysbetalipoproteinaemia, although three family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) showed hypertriglyceridaemia. 8156744 1994
Hyperlipoproteinemia Type III
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
0.730 GeneticVariation BEFREE Dominant expression of type III hyperlipoproteinemia associated with apoE phenotype E3/3 is caused by heterozygosity for a human apoE variant, apoE3(Cys112----Arg, Arg142----Cys). 1730728 1992
Hyperlipoproteinemia Type III
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
0.730 GeneticVariation BEFREE This explains the significant effect of the apoE gene locus on the variability of plasma lipoprotein concentrations and moreover the implication of apoE alleles in the aetiology of multifactorial forms of hyperlipidaemia e.g. familial type III hyperlipidaemia (apoE2; arg158----cys) and polygenic hypercholesterolaemia (apoE4; cys112----arg). 3141688 1988
Hyperlipoproteinemia Type III
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
0.730 GeneticVariation UNIPROT
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.720 GeneticVariation BEFREE This study aimed to evaluate the association of AMD with ApoE gene polymorphism variants (rs7412 and rs429358). 29851526 2018
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.720 GeneticVariation GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.720 GeneticVariation BEFREE In this study, we investigated the association between ApoE C112R/R158C single nucleotide polymorphisms (which determine the E2, E3, and E4 isoforms) and age-related macular degeneration (AMD), and the mechanism underlying the association. 16823865 2006