|
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 |
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'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
|
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
|
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 |
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
|
|
0.900 |
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 |
|
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, 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 |
|
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 |
|
Alzheimer Disease, Early Onset
|
|
0.020 |
GeneticVariation
|
BEFREE |
TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease.
|
23380991 |
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 |
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |