|
Alzheimer's Disease
|
|
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 |
|
Alzheimer's Disease
|
|
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 |
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
In addition to Alzheimer's disease risk, we also examined the association of R47H with Alzheimer's disease-related phenotypes, including age-at-onset, psychosis, and amyloid deposition but found no significant association.
|
26058841 |
2015 |
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The frequency of rs75932628-T as well as the amount of rare variants were higher in the AD patients than in the controls, but this did not reach a statistically significant association with AD (odds ratio: 4.8; 95% confidence interval: 0.54 to 43.6; p = 0.270).
|
26021840 |
2015 |
|
Alzheimer's Disease
|
|
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 |
|
Alzheimer's Disease
|
|
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 |
|
Alzheimer's Disease
|
|
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 |
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
In overall meta-analysis, the summary ORs for rs75932628, rs104894002, and rs143332484 were 2.70 [95% CI: 2.24, 3.24; P < 0.001], 7.21 (95% CI: 1.28, 40.78; P = 0.025), and 1.65 (95% CI: 1.24, 2.21; P = 0.001), respectively, indicating that the TREM2 rs75932628, rs104894002, and rs143332484 may contribute to AD risk.
|
26037549 |
2015 |
|
Alzheimer's Disease
|
|
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 |
|
Alzheimer's Disease
|
|
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 |
|
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 |
|
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 |
|
Alzheimer's Disease
|
|
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 |
|
Alzheimer's Disease
|
|
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 |
|
Alzheimer's Disease
|
|
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 |
|
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 |