|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Although R47H mutation in AD affected the glycosylation and normal trafficking of TREM2 less, the detailed pattern of glycosylated TREM2 differs from that of the wild type, thus suggesting that precise regulation of TREM2 glycosylation is impaired when arginine at 47 is mutated to histidine.
|
25615530 |
2015 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Lymphoblast-derived integration-free iPSC line AD-TREM2-3 from a 74 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant.
|
29902745 |
2018 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Molecular basis for the loss-of-function effects of the Alzheimer's disease-associated R47H variant of the immune receptor TREM2.
|
29794134 |
2018 |
|
rs75932628
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Lymphoblast-derived integration-free iPS cell line from a female 67-year-old Alzheimer's disease patient with TREM2 (R47H) missense mutation.
|
27789408 |
2016 |
|
rs75932628
|
|
|
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
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 amyotrophic lateral sclerosis (ALS).
|
26026943 |
2015 |
|
rs75932628
|
|
|
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Mouse models accurately reproducing phenotypes observed in Alzheimer' disease patients carrying the R47H coding variant are required to understand the TREM2 related dysfunctions responsible for the enhanced risk for late onset Alzheimer's disease.
|
30185230 |
2018 |
|
rs75932628
|
|
|
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
|
|
|
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
|
|
|
0.900 |
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 |
|
rs75932628
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
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 |
|
rs75932628
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
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 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
ApoE4, TREM2 R47H, and rare variants in other genes, such as UNC5C D353N, are likely responsible for the notable occurrence of AD in this family.
|
26076170 |
2015 |
|
rs75932628
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
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 |
|
rs75932628
|
|
|
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Furthermore, carriers of the rs75932628 risk allele showed significantly increased levels of CSF-total-tau (P = .0110) but not Aβ42 suggesting that TREM2's role in AD may involve tau dysfunction.
|
25936935 |
2015 |
|
rs75932628
|
|
|
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 |