Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
TMEM106B has recently been identified as a genetic risk factor for frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP).
|
21104415 |
2011 |
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We further identified a significant association of TMEM106B SNPs with plasma GRN levels in controls (top SNP rs1990622, corrected p = 0.002) and in peripheral blood samples a highly significant correlation was observed between TMEM106B and GRN mRNA expression in patients with FTLD (r = -0.63, p = 7.7 × 10(-5)) and controls (r = -0.49, p = 2.2 × 10(-10)).
|
21178100 |
2011 |
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Homozygous carriers of the TMEM106B protective alleles had a 50% reduced risk of developing frontotemporal lobar degeneration.
|
21354975 |
2011 |
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Rs1990622 (TMEM106B) was identified as a risk factor for frontotemporal lobar degeneration with TAR DNA-binding protein inclusions (FTLD-TDP) in a recent genome-wide association.
|
21220649 |
2011 |
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
With the TMEM106B gene, a new player has been identified in the pathogenic cascade of FTLD which could hold important implications for the future development of disease-modifying therapies.
|
21614538 |
2011 |
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
CTD_human |
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
|
20154673 |
2010 |
Semantic Dementia
|
0.300 |
SusceptibilityMutation
|
disease |
ORPHANET |
What we know about TMEM106B in neurodegeneration.
|
27543298 |
2016 |
Primary Progressive Nonfluent Aphasia
|
0.300 |
SusceptibilityMutation
|
disease |
ORPHANET |
What we know about TMEM106B in neurodegeneration.
|
27543298 |
2016 |
Behavioral variant of frontotemporal dementia
|
0.300 |
SusceptibilityMutation
|
disease |
ORPHANET |
What we know about TMEM106B in neurodegeneration.
|
27543298 |
2016 |
Semantic Dementia
|
0.300 |
SusceptibilityMutation
|
disease |
ORPHANET |
TMEM106B a novel risk factor for frontotemporal lobar degeneration.
|
21614538 |
2011 |
Primary Progressive Nonfluent Aphasia
|
0.300 |
SusceptibilityMutation
|
disease |
ORPHANET |
TMEM106B a novel risk factor for frontotemporal lobar degeneration.
|
21614538 |
2011 |
Behavioral variant of frontotemporal dementia
|
0.300 |
SusceptibilityMutation
|
disease |
ORPHANET |
TMEM106B a novel risk factor for frontotemporal lobar degeneration.
|
21614538 |
2011 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Age at symptom onset in genetic FTD is variable with recently identified genetic modifiers including TMEM106B (in GRN carriers particularly) and a polymorphism at a locus containing two overlapping genes LOC101929163 and C6orf10 (in C9orf72 carriers).
|
31119452 |
2019 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The TMEM106B rs1990622<sup>T</sup> allele, linked to increased risk of FTD, associated with greater MMSE decline over time in PD subjects but not in AD or MCI subjects.
|
30973966 |
2019 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity.
|
29855382 |
2018 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
As TMEM106B is a risk factor for frontotemporal dementia caused by both C9orf72 and progranulin mutations, and antisense oligonucleotides are showing promise as therapeutics for neurodegenerative diseases, our data suggests a potential new strategy for treating the wide range of frontotemporal dementias associated with endolysosomal dysfunction.
|
30496365 |
2018 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Multiple genome-wide association studies have shown that risk of FTD in GRN mutation carriers is modified by polymorphisms in TMEM106B, which encodes a lysosomal membrane protein.
|
29929528 |
2018 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms in TMEM106B are thought to modify disease onset in frontotemporal dementia, but its relation to myelination is not understood.
|
29186371 |
2017 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We subsequently performed a genome-wide association study and identified the TMEM106B and GRN gene loci, previously associated with frontotemporal dementia, as determinants of Δ-aging in the cerebral cortex with genome-wide significance.
|
28330615 |
2017 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Recent studies found that two polymorphisms (rs363371 and rs363324) in VMAT2 might be a risk factor for Parkinson's disease (PD) in Caucasians, while the two other variants (rs1990622 and rs3173615) in TMEM106B increased the risk for frontotemporal dementia (FTD).
|
28477711 |
2017 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
TMEM106B polymorphism, rs1990622 T/C) on grey matter volume in a large cohort of presymptomatic subjects bearing frontotemporal dementia-related pathogenic mutations.
|
28460069 |
2017 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3).
|
28888721 |
2017 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice.
|
28728022 |
2017 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In addition, the finding in the stage 1 sample that AD risk is significantly influenced by the interaction of APOE with rs1595014 in TMEM106B (P=1·6 × 10(-7)) is noteworthy, because TMEM106B variants have previously been associated with risk of frontotemporal dementia.
|
25778476 |
2016 |
Frontotemporal dementia
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
These findings suggest that the up-regulation of TMEM106B may increase the risk of FTLD by directly causing neurotoxicity and a pathological phenotype linked to FTLD-TDP.
|
27563066 |
2016 |