rs75932628
|
|
T |
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 |
rs75932628
|
|
|
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 |
rs75932628
|
|
|
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 |
rs75932628
|
|
|
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 |
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 |
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 |
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 |
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 |
rs75932628
|
|
|
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 |
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 |
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 |
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
|
|
|
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
|
|
|
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 |
rs201280312
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As a result, none of these 3 variants were identified in all subjects, however, 1 novel variant (p.A130V) in TREM2 and 4 novel variants (p.Q860H, p.T837K, p.S843G, and p.V836V) in UNC5C were detected in unrelated patients with late-onset AD.
|
24866402 |
2014 |
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Independent voxel-based morphometry analysis of the Spanish set as well as conjunction and joint analyses revealed substantial gray matter loss in orbitofrontal cortex and anterior cingulate cortex with relative preservation of parietal lobes in AD and/or mild cognitive impairment TREM2 p.R47H carriers, suggesting that TREM2 p.R47H variant is associated with certain clinical and neuroimaging AD features in addition to the increased TREM2 p.R47H atrophy in temporal lobes as described previously.
|
25027412 |
2014 |
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 find p.R47H is a risk factor for AD, but not frontotemporal dementia or prion disease.
|
25160042 |
2014 |
rs75932628
|
|
|
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
|
|
|
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 |
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 |
Recent genome-wide association studies have shown that a rare R47H mutation of TREM2 correlates with a substantial increase in the risk of developing Alzheimer's disease (AD).
|
25728668 |
2015 |
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 |
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 |