rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our results support the consensus that the R47H variant is significantly associated with AD.
|
31513029 |
2020 |
rs75932628
|
|
|
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
|
|
|
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 |
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 |
We generated transgenic mice expressing human CV or R47H TREM2 and lacking endogenous TREM2 in the 5XFAD AD model.
|
29321225 |
2018 |
rs75932628
|
|
|
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
|
|
|
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 |
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 |
Lymphoblast-derived integration-free iPSC line AD-TREM2-1 from a 67year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant.
|
29602048 |
2018 |
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 |
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 |
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 |
In contrast, CSF sTREM2 levels were significantly higher in R47H carriers compared to non-carriers (P = 6×10(-3)), suggesting that this variant does not impact protein expression and increases AD risk through a different pathogenic mechanism than NHD variants.
|
26754641 |
2016 |
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 |
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 |
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Expression and processing analyses of wild type and p.R47H TREM2 variant in Alzheimer's disease brains.
|
27887626 |
2016 |
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our study suggests that Vps35/retromer is responsible for recycling of Trem2 in the regulation of microglial function such as proinflammatory responses, whereas R47H mutation impairs Trem2 trafficking, which might contribute to AD.
|
27717139 |
2016 |
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 |
Recent genome-wide association studies revealed TREM2 rs75932628-T variant to be associated with Alzheimer's disease (AD) and other neurodegenerative diseases.
|
27051467 |
2016 |
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Lymphoblast-derived integration-free iPS cell line from a 65-year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant.
|
27345793 |
2016 |
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A rare TREM2 missense mutation (rs75932628-T) was reported to confer a significant Alzheimer's disease (AD) risk.
|
26365049 |
2016 |
rs75932628
|
|
|
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
|
|
|
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
|
|
|
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 |