|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
GWASCAT |
A rare missense mutation (rs75932628-T) in the gene encoding the triggering receptor expressed on myeloid cells 2 (TREM2), which was predicted to result in an R47H substitution, was found to confer a significant risk of Alzheimer's disease in Iceland (odds ratio, 2.92; 95% confidence interval [CI], 2.09 to 4.09; P=3.42×10(-10)).
|
23150908 |
2013 |
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Given the reported antiinflammatory role of TREM2 in the brain, the R47H substitution may lead to an increased predisposition to Alzheimer's disease through impaired containment of inflammatory processes.
|
23150908 |
2013 |
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
GWASDB |
A rare missense mutation (rs75932628-T) in the gene encoding the triggering receptor expressed on myeloid cells 2 (TREM2), which was predicted to result in an R47H substitution, was found to confer a significant risk of Alzheimer's disease in Iceland (odds ratio, 2.92; 95% confidence interval [CI], 2.09 to 4.09; P=3.42×10(-10)).
|
23150908 |
2013 |
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Meta-analysis of rs75932628 genotypes imputed from genomewide association studies confirmed this association (P=0.002), as did direct genotyping of an additional series of 1887 patients with Alzheimer's disease and 4061 controls (P<0.001).
|
23150934 |
2013 |
|
Alzheimer Disease, Late Onset
|
|
0.080 |
GeneticVariation
|
BEFREE |
Only the rs75932628-T variant (predicted to cause an R47H substitution) conferred a significant risk for early-onset AD (OR, 4.07; 95% CI, 1.3 to 16.9; p = 0.009).
|
23380991 |
2013 |
|
Alzheimer Disease, Early Onset
|
|
0.020 |
GeneticVariation
|
BEFREE |
TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease.
|
23380991 |
2013 |
|
Alzheimer's Disease
|
|
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 |
|
Alzheimer Disease, Late Onset
|
|
0.080 |
GeneticVariation
|
BEFREE |
Recent works have demonstrated a rare functional variant (R47H) in triggering receptor expressed on myeloid cells (TREM) 2 gene, encoding TREM2 protein, increase susceptibility to late-onset Alzheimer's disease (AD), with an odds ratio similar to that of the apolipoprotein E ε4 allele.
|
23407992 |
2013 |
|
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 |
|
Alzheimer's Disease
|
|
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 |
|
Parkinson Disease
|
|
0.080 |
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 |
|
Neurodegenerative Disorders
|
|
0.070 |
GeneticVariation
|
BEFREE |
With this in mind we set out to assess the genetic association of the Alzheimer's disease-related risk variant in TREM2 (rs75932628, p.R47H) with other related neurodegenerative disorders.
|
23800361 |
2013 |
|
Frontotemporal dementia
|
|
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 |
|
Amyotrophic Lateral Sclerosis
|
|
0.060 |
GeneticVariation
|
BEFREE |
A significant association was observed for the TREM2 p.R47H substitution in susceptibility to frontotemporal dementia (OR = 5.06; p-value = 0.001) and Parkinson's disease (OR = 2.67; p-value = 0.026), while no evidence of association with risk of amyotrophic lateral sclerosis, progressive supranuclear palsy or ischemic stroke was observed.
|
23800361 |
2013 |
|
Pick Disease of the Brain
|
|
0.040 |
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 |
|
Ischemic stroke
|
|
0.010 |
GeneticVariation
|
BEFREE |
A significant association was observed for the TREM2 p.R47H substitution in susceptibility to frontotemporal dementia (OR = 5.06; p-value = 0.001) and Parkinson's disease (OR = 2.67; p-value = 0.026), while no evidence of association with risk of amyotrophic lateral sclerosis, progressive supranuclear palsy or ischemic stroke was observed.
|
23800361 |
2013 |
|
Progressive supranuclear palsy
|
|
0.010 |
GeneticVariation
|
BEFREE |
A significant association was observed for the TREM2 p.R47H substitution in susceptibility to frontotemporal dementia (OR = 5.06; p-value = 0.001) and Parkinson's disease (OR = 2.67; p-value = 0.026), while no evidence of association with risk of amyotrophic lateral sclerosis, progressive supranuclear palsy or ischemic stroke was observed.
|
23800361 |
2013 |
|
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 |
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
A meta-analysis comprising 32,598 subjects from 4 previous studies demonstrated the large effect of the p.R47H variant in AD risk (OR = 4.11, 95% CI = 2.99-5.68, p = 5.27×10(-18)).
|
24041969 |
2014 |
|
Frontotemporal dementia
|
|
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 |
|
Pick Disease of the Brain
|
|
0.040 |
GeneticVariation
|
BEFREE |
Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia.
|
24041969 |
2014 |
|
Presenile dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
We did not find an association between p.R47H and age of onset of AD or family history of dementia.
|
24041969 |
2014 |
|
Dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
We did not find an association between p.R47H and age of onset of AD or family history of dementia.
|
24041969 |
2014 |
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Meta-analysis including 11 previously screened AD cohorts confirmed the association of p.R47H with AD (p = 2.93×10(-17)).
|
24119542 |
2014 |
|
Frontotemporal dementia
|
|
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 |