|
rs75932628
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The previously reported functional mutation rs75932628-T (p.R47H) in the triggering receptor expressed on myeloid cells 2 (TREM2) is a genetic risk factor for Alzheimer's disease, Parkinson's disease (PD) and frontotemporal dementia, in European populations.
|
26758262 |
2016 |
|
rs75932628
|
|
|
0.060 |
GeneticVariation |
BEFREE |
None of the rare variants individually reached significant association, but the frequency of p.R47H was increased ~ 3-fold in both AD and FTD patients compared to controls, in line with previous reports.
|
24119542 |
2014 |
|
rs75932628
|
|
|
0.060 |
GeneticVariation |
BEFREE |
These data strongly support the important role of p.R47H in AD risk, and suggest that this rare genetic variant is not related to FTD.
|
24041969 |
2014 |
|
rs75932628
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The p.R47H variant was found in 4 patients with FTD-S. Two of these patients showed cerebrospinal fluid pattern of amyloid beta, tau, and phosphorylated-tau suggesting underlying Alzheimer's disease (AD) pathology.
|
25042114 |
2014 |
|
rs75932628
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We confirm only p.R47H as a risk factor for AD (odds ratio or OR = 2.19; 95% confidence interval or CI = 1.04-4.51; P = .03). p.R47H does not significantly alter risk for frontotemporal dementia (OR = 0.81), variant or sporadic CJD (OR = 1.06 95%CI = 0.66-1.69) in our cohorts.
|
25160042 |
2014 |
|
rs75932628
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Our results suggest that the TREM2 p.R47H substitution is a risk factor for frontotemporal dementia and Parkinson's disease in addition to Alzheimer's disease.
|
23800361 |
2013 |
|
rs753325601
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Given recent findings of enrichment of rare TREM2 variants (including R47C) in Alzheimer's disease, it is notable that we detected a homozygous TREM2 R47C carrier presenting with an FTD rather than an Alzheimer's disease phenotype.
|
29748150 |
2018 |
|
rs201258663
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The FTD-like syndrome causing TREM2 T66M mutation impairs microglia function, brain perfusion, and glucose metabolism.
|
28559417 |
2017 |
|
rs2234253
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The present findings provide evidence that p.T96K is associated with FTD-S and that p.L211P may contribute to its pathogenic effect.
|
25042114 |
2014 |
|
rs2234256
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The present findings provide evidence that p.T96K is associated with FTD-S and that p.L211P may contribute to its pathogenic effect.
|
25042114 |
2014 |