|
Familial Alzheimer Disease (FAD)
|
0.510 |
Biomarker
|
disease |
ORPHANET |
Gene expression profiling of peripheral blood leukocytes shows consistent longitudinal downregulation of TOMM40 and upregulation of KIR2DL5A, PLOD1, and SLC2A8 among fast progressors in early Alzheimer's disease.
|
23234877 |
2013 |
|
Familial Alzheimer Disease (FAD)
|
0.510 |
Biomarker
|
disease |
CTD_human |
Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel Genetic Players Influencing Alzheimer's Disease Cerebrospinal Fluid Biomarkers.
|
30320580 |
2018 |
|
Familial Alzheimer Disease (FAD)
|
0.510 |
Biomarker
|
disease |
CTD_human |
Hidden heterogeneity in Alzheimer's disease: Insights from genetic association studies and other analyses.
|
29107063 |
2018 |
|
Familial Alzheimer Disease (FAD)
|
0.510 |
GeneticVariation
|
disease |
BEFREE |
We investigated the association between TOMM40 rs10524523, age of onset, and memory performance in patients with the PSEN1 M146L mutation in a large familial Alzheimer's disease Calabrian kindred, with a wide variability of onset not attributable to APOE.
|
23792692 |
2013 |
|
Familial Alzheimer Disease (FAD)
|
0.510 |
Biomarker
|
disease |
CTD_human |
Genome-Wide Association and Mechanistic Studies Indicate That Immune Response Contributes to Alzheimer's Disease Development.
|
30319691 |
2018 |
|
Familial Alzheimer Disease (FAD)
|
0.510 |
Biomarker
|
disease |
CTD_human |
Association Analysis of Polymorphisms in TOMM40, CR1, PVRL2, SORL1, PICALM, and 14q32.13 Regions in Colombian Alzheimer Disease Patients.
|
27023435 |
2017 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.
|
23565137 |
2013 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A number of recent studies have not replicated the association of the translocase of the outer mitochondrial membrane pore subunit (TOMM40) rs10524523 polymorphism, which is in linkage disequilibrium with apolipoprotein E (APOE), with age of onset of Alzheimer's disease (AD).
|
23333464 |
2013 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
(2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI = 4.03 × 10(-05), pBMI corr = 2.50 × 10(-03) ; rs3851179 at PICALM; pBMI = 0.002, rs2075650 at TOMM40/APOE, pBMI = 0.024, rs3865444 at CD33, pBMI = 0.024).
|
24788522 |
2014 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease.
|
19136949 |
2009 |
|
Alzheimer's Disease
|
0.500 |
PosttranslationalModification
|
disease |
BEFREE |
The hypothesis of this investigation was that regulatory element methylation levels of the larger TOMM40-APOE-APOC2 region are associated with AD.
|
29371683 |
2018 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
|
20061627 |
2010 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
We report the fine mapping/sequencing results of promoter and regulatory regions of APOE cluster genes (APOE, APOC1, APOC4, APOC2, and TOMM40) in Alzheimer's disease (AD) risk as well as in the progression from mild cognitive impairment (MCI) to AD.
|
21752496 |
2011 |
|
Alzheimer's Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Further, recent research also revealed that the protein levels of mitochondrial outer membrane protein, voltage-dependent anion channel 1 (VDAC1), are elevated in the affected regions of AD postmortem brains and cortical tissues from APP transgenic mice.
|
22995655 |
2013 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The effects of the TOMM40 poly-T alleles on Alzheimer's disease phenotypes.
|
29524426 |
2018 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study of Alzheimer's disease with psychotic symptoms.
|
22005930 |
2012 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
|
20885792 |
2010 |
|
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 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 |
Biomarker
|
disease |
BEFREE |
The APOE, APOC1, and TOMM40 showed significant associations with AD in the single variant analysis.
|
24685331 |
2014 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities.
|
30636644 |
2019 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide analysis of genetic loci associated with Alzheimer disease.
|
20460622 |
2010 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide analysis of genetic loci associated with Alzheimer disease.
|
20460622 |
2010 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A polyT repeat in an intronic polymorphism (rs10524523) in the TOMM40 gene, which encodes an outer mitochondrial membrane translocase involved in the transport of amyloid-β and other proteins into mitochondria, has been implicated in Alzheimer's disease and APOE-TOMM40 genotypes have been shown to modify disease risk and age at onset of symptoms.
|
24103330 |
2013 |