|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The triggering receptor expressed on myeloid cells 2 (TREM2) gene has been reported to increase the risk of Alzheimer's disease (AD).
|
31204042 |
2019 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This protective effect is due, at least in part, to enhanced microglial Aβ phagocytosis caused by PGRN deficiency-induced expression of TYROBP network genes (TNG) including an AD risk factor Trem2.
|
28070672 |
2017 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In contrast, carriers of variants in TREM2 risk showed a lower degree of neuronal loss compared to matched AD cases in multiple independent studies.
|
29880032 |
2018 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Massive parallel sequencing recently allowed the identification of three genes carrying a higher burden of rare, protein-truncating and missense predicted damaging variants in Alzheimer disease (AD) cases as compared to controls: TREM2, SORL1, and ABCA7.
|
30911827 |
2019 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sequence variations in the triggering receptor expressed on myeloid cells 2 (TREM2) have been linked to an increased risk for neurodegenerative disorders such as Alzheimer's disease and frontotemporal lobar degeneration.
|
28483841 |
2017 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results indicated that p.H157Y was associated with an increased risk of AD (OR=3.65, 95% CI: 1.61-8.28; P=0.002), further establishing TREM2 as an important susceptibility gene for this disease.
|
27501831 |
2016 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
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 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although rs75932628 in triggering receptor expressed on myeloid cells 2 (TREM2) was shown to increase the risk for Alzheimer's disease, there is no agreement on the association between this variant and the risk for Parkinson's disease (PD).
|
26058955 |
2015 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Individuals with p.R47H associated AD (n = 12) had significantly earlier symptom onset than individuals with no TREM2 variants (n = 551) (55.2 years vs. 61.7 years, P = .02).
|
25160042 |
2014 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the first positive replication study in a Spanish population and confirm that TREM2 rs75932628-T is associated with the risk for AD.
|
23391427 |
2013 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We analyzed RNA-Seq data from parietal lobe brain tissue from AD cases with TREM2 variants (n = 33), AD cases (n = 195) and healthy controls (n = 118), from three independent datasets using Kallisto and the R package tximport to determine the read count for each transcript and quantified transcript abundance as transcripts per million.
|
31068200 |
2019 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
More evidence for association of a rare TREM2 mutation (R47H) with Alzheimer's disease risk.
|
26058841 |
2015 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, recent evidence-associated rare genetic variants of TREM2 gene with increased risk of Alzheimer's disease, frontotemporal dementia, amyotrophic lateral sclerosis, and Parkinson's disease.
|
28214109 |
2017 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
GWASCAT |
Variant of TREM2 associated with the risk of Alzheimer's disease.
|
23150908 |
2013 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Coding variants in TREM2 increase risk for Alzheimer's disease.
|
24899047 |
2014 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
TREM2 rare protein coding genetic variants have been linked to AD.
|
29685286 |
2018 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Notably, loss-of-function mutations of either <i>DAP12</i> or <i>TREM2</i> result in a disorder known as Nasu-Hakola disease (NHD); and mutations of these genes have been associated with the risk for Alzheimer's disease (AD), suggesting that TREM2 and DAP12 may regulate common signaling pathways in the disease pathogenesis.
|
28680398 |
2017 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A rare TREM2 missense mutation (rs75932628-T) was reported to confer a significant Alzheimer's disease (AD) risk.
|
26365049 |
2016 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Rare variants in TREM2 were reported to be associated with significant Alzheimer's disease (AD) risk.
|
27769848 |
2016 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
TREM2 variants associated with Alzheimer's disease induce partial loss of function of the TREM2 protein and alter the behaviour of microglial cells, including their response to amyloid plaques.
|
30033062 |
2018 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two variants in SORL1 and TREM2 were identified that were associated with Alzheimer's disease.
|
31217084 |
2020 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Moreover, the rare TREM2 variant (p.Arg47His), which was considered to be a risk factor for Alzheimer's disease in European descent populations, was not detected in our cohort.
|
29723869 |
2018 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our data corroborate and extend previous findings to include an increased frequency of rare heterozygous TREM2 variations in AD and FTD, and show that TREM2 variants may play a role in neurodegenerative diseases in general.
|
24119542 |
2014 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A cross-sectional study of 1027 participants of the Alzheimer's Disease Imaging Initiative (ADNI) cohort, including 43 subjects carrying TREM2 rare genetic variants, was conducted to measure CSF sTREM2 using a previously validated enzyme-linked immunosorbent assay (ELISA).
|
30630532 |
2019 |
|
Alzheimer's Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our 3.1 Å TREM2 crystal structure revealed that mutations found in Nasu-Hakola disease are buried whereas Alzheimer's disease risk variants are found on the surface, suggesting that these mutations have distinct effects on TREM2 function.
|
27995897 |
2016 |