|
rs143624519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Pathogenic mutations in the tau gene (microtubule associated protein tau, MAPT) are linked to the onset of tauopathy, but the A152T variant is unique in acting as a risk factor for a range of disorders including Alzheimer's disease (AD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and dementia with Lewy bodies (DLB).
|
30674342 |
2019 |
|
rs143624519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
A novel variant in MAPT resulting in an alanine to threonine substitution at position 152 (A152T tau) has recently been described as a significant risk factor for both frontotemporal lobar degeneration and Alzheimer's disease.
|
30590647 |
2019 |
|
rs143624519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
A recently identified Tau variant, p.A152T, has been reported as a risk factor for frontotemporal dementia-related disorders and Alzheimer disease.
|
29894752 |
2018 |
|
rs143624519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The A152T-variant of human tau (hTau-A152T) increases the risk of Alzheimer's disease (AD) and several other tauopathies.
|
29859869 |
2018 |
|
rs143624519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
MAPT p.A152T was borderline significantly associated with FTD [odds ratio (OR) = 2.03; p = 0.063], but not with AD.
|
26444794 |
2016 |
|
rs143624519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Overall, our findings suggest that MAPT p.A152T is a rare low penetrance variant likely associated with DLB that may be influenced by coexisting LBD and AD pathology.
|
26333800 |
2015 |
|
rs143624519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Thus, MAPT p.A152T is associated with a variety of FTD spectrum clinical presentations, although patients with clinical AD are also identified.
|
23518664 |
2014 |
|
rs143624519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
These data provide both the first genetic evidence and functional studies supporting the role of MAPT p.A152T as a rare risk factor for both FTD-s and AD and the concept that rare variants can increase the risk for relatively common, complex neurodegenerative diseases, but since no clear significance threshold for rare genetic variation has been established, some caution is warranted until the findings are further replicated.
|
22556362 |
2012 |