|
rs429358
|
|
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 |
|
rs429358
|
|
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 |
|
rs429358
|
|
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 |
|
rs429358
|
|
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 |
|
rs429358
|
|
Alzheimer's Disease
|
C |
0.890 |
GeneticVariation
|
GWASCAT |
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
|
23419831 |
2014 |
|
rs429358
|
|
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 |
|
rs429358
|
|
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 |
|
rs429358
|
|
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 |
|
rs429358
|
|
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 |
|
rs429358
|
|
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 |
|
rs429358
|
|
Alzheimer's Disease
|
C |
0.890 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia.
|
22481068 |
2012 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline.
|
22962670 |
2012 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
BEFREE |
The apolipoprotein E2 (Lys146-->Gln) variant is associated with a dominant form of familial dysbetalipoproteinemia.
|
10894820 |
2000 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
UNIPROT |
We have identified a kindred in which heterozygosity for an apoE mutant, apoE-1 (Lys146-->Glu), is dominantly associated with the expression of type III hyperlipoproteinemia.
|
7635945 |
1995 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
BEFREE |
Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146-->Glu).
|
7635945 |
1995 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
BEFREE |
Family analyses of the APOE*2(Lys146-->Gln) FD subjects showed that the apo E to apo B ratio in the d < 1.019 g/ml lipoprotein fraction of allele carriers is 3.5 times as high as that found in non-carriers (2.8 vs. 0.8, by wt.).
|
7980718 |
1994 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA.
|
8287539 |
1994 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
BEFREE |
Variable expression of familial dysbetalipoproteinemia in apolipoprotein E*2 (Lys146-->Gln) Allele carriers.
|
8083367 |
1994 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
BEFREE |
ApoE mutations that occur in the binding domain, e.g., apoE2 (Lys146----Gln) have a direct effect on the ligand-receptor binding and, in these individuals, FD is inherited in an autosomal dominant way.
|
1588125 |
1992 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene.
|
1361196 |
1992 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.
|
1674745 |
1991 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi).
|
2101409 |
1991 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
BEFREE |
Family studies of the three probands heterozygous for the E*2(lys146----gln) allele showed that this rare allele predisposes to FD with high penetrance.
|
2313204 |
1990 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Identification of human apolipoprotein E variant gene: apolipoprotein E7 (Glu244,245----Lys244,245).
|
2738044 |
1989 |