|
Alzheimer Disease, Early Onset
|
|
0.020 |
GeneticVariation
|
BEFREE |
R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia.
|
25160042 |
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
|
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
|
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 |
A rare TREM2 missense mutation (rs75932628-T) was reported to confer a significant Alzheimer's disease (AD) risk.
|
26365049 |
2016 |
|
Neurodegenerative Disorders
|
|
0.070 |
GeneticVariation
|
BEFREE |
A rare variant in TREM2 (p.R47H, rs75932628) was recently reported to increase the risk of Alzheimer's disease (AD) and, subsequently, other neurodegenerative diseases, i.e. frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD).
|
25936935 |
2015 |
|
Frontotemporal Lobar Degeneration
|
|
0.020 |
GeneticVariation
|
BEFREE |
A rare variant in TREM2 (p.R47H, rs75932628) was recently reported to increase the risk of Alzheimer's disease (AD) and, subsequently, other neurodegenerative diseases, i.e. frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD).
|
25936935 |
2015 |
|
Amyotrophic Lateral Sclerosis
|
|
0.060 |
GeneticVariation
|
BEFREE |
A rare variant in TREM2 (p.R47H, rs75932628) was recently reported to increase the risk of Alzheimer's disease (AD) and, subsequently, other neurodegenerative diseases, i.e. frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD).
|
25936935 |
2015 |
|
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 |
|
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 |
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 |
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 |
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 |
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 |
|
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 |
|
Amyotrophic Lateral Sclerosis
|
|
0.060 |
GeneticVariation
|
BEFREE |
Assessment of TREM2 rs75932628 association with amyotrophic lateral sclerosis in a Chinese population.
|
26026943 |
2015 |
|
Parkinson Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
Assessment of TREM2 rs75932628 association with Parkinson's disease and multiple system atrophy in a Chinese population.
|
26058955 |
2015 |
|
Alzheimer Disease, Late Onset
|
|
0.080 |
GeneticVariation
|
BEFREE |
Association study of TREM2 polymorphism rs75932628 with late-onset Alzheimer's disease in Chinese Han population.
|
24725293 |
2014 |
|
Presenile dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Eleven patients with dementia had apolipoprotein E 4 (ApoE4) and R47H genotypes.
|
26076170 |
2015 |
|
Dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Eleven patients with dementia had apolipoprotein E 4 (ApoE4) and R47H genotypes.
|
26076170 |
2015 |
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Expression and processing analyses of wild type and p.R47H TREM2 variant in Alzheimer's disease brains.
|
27887626 |
2016 |
|
Alzheimer's Disease
|
|
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 |
|
Mild cognitive disorder
|
|
0.020 |
GeneticVariation
|
BEFREE |
Furthermore, we tested whether rs75932628 shows association with amyloid beta (Aβ42) and total-tau protein levels in the cerebrospinal fluid (CSF) of 828 individuals with AD or mild cognitive impairment.
|
25936935 |
2015 |
|
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 |