|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
GWAS on family history of Alzheimer's disease.
|
29777097 |
2018 |
|
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 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
The results of analyses confirmed strong associations of genetic variants from well-known genes APOE, TOMM40, PVRL2 (NECTIN2), and APOC1 with AD.
|
29107063 |
2018 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data provide support for TOMM40 variant repeat length as an important contributor to AD-like MTL pathology in the absence of APOE ε4.
|
28183529 |
2017 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We compared the APOE ε4-TOMM40 '523 haplotypes between older Caucasian and African Americans, and examined their relationship with AD dementia.
|
28672022 |
2017 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The apolipoprotein E (<i>APOE</i>) genotype and a polymorphism (rs10524523) in the translocase of outer mitochondrial membrane 40 (<i>TOMM40</i>) gene have been associated with the age of onset of AD.
|
29124110 |
2017 |
|
Alzheimer's Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
TOMM40 mRNA expression was lower in AD subjects and was correlated with cognitive decline.
|
28984592 |
2017 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
CTD_human |
However, Kaplan-Meier survival analyses suggest that AD patients with TOMM40 allele rs2075650-G have an average age of disease onset of 6 years earlier compared with carriers of the A allele.
|
27023435 |
2017 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
These results may clarify conflicting findings on TOMM40 poly-T length and AD-related decline.
|
28549947 |
2017 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
This commentary describes the history and problem(s) in interpretation of the genetic interrogation of the "APOE" region and provides insight into a metabolic mitochondrial basis for the etiology of AD using both APOE and TOMM40 genetics.
|
27154058 |
2016 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
We identified a novel locus for T2D susceptibility at genome-wide significance (P<5 × 10(-8)) that maps to TOMM40-APOE, a region previously implicated in lipid metabolism and Alzheimer's disease.
|
27189021 |
2016 |
|
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 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We conclude that rs2075650 in TOMM40 gene may increase the risk of Alzheimer disease.
|
26572157 |
2016 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Collectively, our analysis shows TOMM40 rs2075650 polymorphism is associated with AD susceptibility in Asian, Caucasian, and mixed populations.
|
27328316 |
2016 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
We confirm that variation in/near APOE/TOMM40 (P = 6 × 10(-14)) alters PCA risk, but with smaller effect than for typical AD (PCA: odds ratio [OR] = 2.03, typical AD: OR = 2.83, P = .0007).
|
26993346 |
2016 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.
|
26993346 |
2016 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Alleles A of CD33 rs3865444 and A of TOMM40 rs157580 were both protective factors for AD onset (OR=0.94, 95% CI: 0.90-0.98, P value=0.003; OR=0.62, 95% CI: 0.57-0.66, P value <0.001).
|
26795201 |
2016 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
APOE4/TOMM40 locus and the ALZ PRS, but not the PRS for SCZ, were associated with greater cognitive decline.
|
26873889 |
2016 |
|
Alzheimer's Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
TOMM40 gene expression remained significantly lower in AD patients at all time-points compared to controls, supported by confirmatory RT-PCR results.
|
25201778 |
2015 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
The loci that replicated (FDR < 5%) included APOE/TOMM40 (associated with Alzheimer's disease), CDKN2B/ANRIL (implicated in the regulation of cellular senescence), ABO (tags the O blood group), and SH2B3/ATXN2 (a signaling gene that extends lifespan in Drosophila and a gene involved in neurological disease).
|
26677855 |
2015 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings, also supported by the β-amyloid plasma assay, confirm (1) the pathogenic role of the APP A713T mutation, (2) the specific phenotype (AD with cerebrovascular lesions) associated with this mutation, and (3) the large span of age at onset, not influenced by APOE, TOMM40, and TREM2 genes.
|
25948718 |
2015 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
F-box/LRR-repeat protein 7 is genetically associated with Alzheimer's disease.
|
26339675 |
2015 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
In hypothesis-driven tests, there was significant association between general cognitive function and four genes previously associated with Alzheimer's disease: TOMM40, APOE, ABCG1 and MEF2C.
|
25644384 |
2015 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To test for independent associations between two Alzheimer's disease-susceptibility gene loci--APOE ε and the TOMM40 '523' poly-T repeat--and white matter hyperintensities/cerebral microbleed burden in community-dwelling older adults.
|
26310205 |
2015 |
|
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 |