|
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 |
|
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 |
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 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
|
20061627 |
2010 |
|
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 |
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 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
Examination of the current top candidate genes for AD in a genome-wide association study.
|
19125160 |
2010 |
|
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 |
Alzheimer's disease susceptibility genes APOE and TOMM40, and hippocampal volumes in the Lothian birth cohort 1936.
|
24260406 |
2013 |
|
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 |
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 |
Shared genetic architecture between metabolic traits and Alzheimer's disease: a large-scale genome-wide cross-trait analysis.
|
30805717 |
2019 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report evidence that the association of SNPs in the TOMM40 gene with AD is potentially mediated by both gene expression and DNA methylation in the prefrontal cortex.
|
29777097 |
2018 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
|
24755620 |
2014 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.
|
24770881 |
2014 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
|
21460841 |
2011 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study of Alzheimer's disease.
|
22832961 |
2012 |