|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
While our results serve to confirm the association between R47H and risk of AD, the observed effect on risk was substantially smaller than that previously reported.
|
25186855 |
2014 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We generated transgenic mice expressing human CV or R47H TREM2 and lacking endogenous TREM2 in the 5XFAD AD model.
|
29321225 |
2018 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We find p.R47H is a risk factor for AD, but not frontotemporal dementia or prion disease.
|
25160042 |
2014 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We did not identify the polymorphism p.R47H (rs75932628), strongly associated with an increased risk of developing Alzheimer's disease.
|
23759145 |
2013 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Two recent studies have identified that a rare coding variant (p.R47H) in exon 2 of triggering receptor expressed on myeloid cells 2 (TREM2) gene is associated with Alzheimer's disease (AD) susceptibility in Caucasians.
|
27067662 |
2016 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Two rare variants have been nominally associated with AD risk or protection (TREM2 p.R47H, MAF approximately 0.002, OR approximately 4 and APP p.A673T, MAF approximately 0.0005, OR approximately 0.2).
|
28002825 |
2016 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Two DS cases had the AD-associated TREM2-R47H mutation, which manifested a morphologically extreme phenotype of megakaryocytes and erythrocytes in addition to impaired trafficking of TREM2 to the erythroid membrane.
|
29278889 |
2018 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
TREM2 encodes a cell surface receptor expressed on microglia and related cells, and the R47H variant associated with AD appears to affect the ability of TREM2 to bind extracellular ligands.
|
27589997 |
2016 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Three variants in TREM2 (rs75932628 (R47H), rs2234255 (H157Y), and rs143332484 (R62H)) were significantly associated with AD risk, but the similar associations between rs104894002 (Q33X), rs2234253 (T96K), rs142232675 (D87N), rs2234256 (L211P), and AD were not proven.
|
30883352 |
2019 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
This study replicates the association between R47H and Alzheimer's disease risk in a large, population-based sample, and estimates the population frequency and attributable risk of this rare variant.
|
23855982 |
2013 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
These data suggest that the AD-associated TREM2 R47H variant increases risk for AD by conferring a loss of TREM2 function and enhancing neuritic dystrophy around plaques.
|
29859094 |
2018 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The results showed that rs75932628 variant was significantly associated with AD in caucasian population (P < .001, odds ratio ¼ 3.17, 95% confidence interval 2.45-4.09).
|
25852195 |
2015 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The rare variant R47H TREM2 is associated with an increased risk for Alzheimer's disease, supporting the hypothesis that TREM2 loss of function may exacerbate disease progression.
|
29599291 |
2018 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
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
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The frequency of rs75932628-T as well as the amount of rare variants were higher in the AD patients than in the controls, but this did not reach a statistically significant association with AD (odds ratio: 4.8; 95% confidence interval: 0.54 to 43.6; p = 0.270).
|
26021840 |
2015 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The different biochemical characteristics of TREM2 R47H, including glycosylation, solubility and processing, may offer insights into a future therapeutic strategy for AD.
|
28149270 |
2016 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
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
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Shedding is not altered for the R47H-mutated TREM2 protein that confers an increased risk for the development of Alzheimers disease.
|
28923481 |
2017 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Several studies have shown that TREM2 gene variant rs75932628-T increased the risks for Alzheimer's disease (AD), Parkinson's disease, frontotemporal dementia and amyotrophic lateral sclerosis.
|
25186950 |
2015 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recently, a rare missense variant (p.R47H) in the microglial activating gene TREM2 was found to increase the risk of several neurodegenerative diseases, including Alzheimer disease.
|
24535663 |
2014 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recently, 3 rare coding variants significantly associated with Alzheimer's disease (AD) risk have been identified in western populations using whole exome sequencing method, including p.R47H in TREM2, p.V232M in PLD3, and p.T835M in UNC5C.
|
24866402 |
2014 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recent studies have reported that a rare nonsynonymous variant rs75932628-T in the TREM2 gene is associated with increased risk of Alzheimer's disease and Parkinson's disease (PD) in European-descended populations.
|
24602511 |
2014 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recent studies have identified a rare coding variant (p.R47H) in TREM2 that confers a high risk for Alzheimer's disease (AD).
|
24439484 |
2014 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recent studies have found an association between a variant in triggering receptor expressed on myeloid cells 2 (TREM2) (rs75932628-T) and both Alzheimer's disease (AD) and cognitive function in individuals aged 80-100 years.
|
24378087 |
2014 |
|
rs75932628
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recent genome-wide association studies revealed TREM2 rs75932628-T variant to be associated with Alzheimer's disease (AD) and other neurodegenerative diseases.
|
27051467 |
2016 |