|
LEUKODYSTROPHY, HYPOMYELINATING, 16
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
|
29186371 |
2017 |
|
LEUKODYSTROPHY, HYPOMYELINATING, 16
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.
|
29444210 |
2018 |
|
LEUKODYSTROPHY, HYPOMYELINATING, 16
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.
|
29444210 |
2018 |
|
LEUKODYSTROPHY, HYPOMYELINATING, 16
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
|
29186371 |
2017 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Common variants in TMEM106B serve as a distinct risk factor for TDP-43 pathology in older persons without FTLD.
|
25653292 |
2015 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In contrast, the HpScl groups (HpScl and HpScl-AD) were more likely to exhibit genetic variants in GRN and TMEM106B that are associated with frontotemporal lobar degeneration.
|
24899141 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recent large genome-wide association studies have found variants in TMEM106B (top SNP rs1990622) as a strong risk factor for frontotemporal lobar degeneration.
|
24166182 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Transmembrane Protein 106B SNP rs1990622 was recently shown to modify the risk of frontotemporal lobar degeneration with TDP-43 inclusions (FTD-TDP).
|
25096617 |
2015 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Remarkably, Tmem106b deletion from Grn<sup>-/-</sup> mice normalizes lysosomal protein levels and rescues FTLD-related behavioral abnormalities and retinal degeneration without improving lipofuscin, C1q, and microglial accumulation.
|
28728022 |
2017 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions.
|
25085782 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Membrane orientation and subcellular localization of transmembrane protein 106B (TMEM106B), a major risk factor for frontotemporal lobar degeneration.
|
22511793 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We investigated the rs1990622 polymorphism in relation to regional brain volumes to identify potential structures through which TMEM106B confers risk for frontotemporal lobar degeneration.
|
24731779 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This variant is in high LD with the TMEM106B non-synonymous variant p.T185S (rs3173615; r<sup>2</sup> = 0.98) which was previously identified as a protective variant for frontotemporal lobar degeneration (FTLD).
|
31456032 |
2020 |
|
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 |
Single nucleotide polymorphisms (SNPs) inherited as one of two common haplotypes at the transmembrane protein 106B (TMEM106B) locus are associated with the risk of multiple neurodegenerative diseases, including frontotemporal lobar degeneration with pathological inclusions of TDP-43.
|
29970152 |
2018 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Transmembrane protein 106B (TMEM106B) has been identified as a risk factor for frontotemporal lobar degeneration, which is the second most common form of progressive dementia in people under 65 years of age.
|
26651479 |
2015 |
|
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 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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia.
|
23742080 |
2013 |
|
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 |
The most significant association of TMEM106B single nucleotide polymorphisms with risk of FTLD-TDP was observed in patients with progranulin (GRN) mutations.
|
22511793 |
2012 |
|
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 |