|
Mental deterioration
|
|
0.010 |
GeneticVariation
|
BEFREE |
We also found that the TREM2 R47H gene variant was associated with changes in cognitive decline in the large cohort of HD patients, whereas 2 of 3 TLR4 single nucleotide polymorphisms assessed were associated with changes in motor progression in this same group.
|
31724242 |
2020 |
|
Huntington Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We also found that the TREM2 R47H gene variant was associated with changes in cognitive decline in the large cohort of HD patients, whereas 2 of 3 TLR4 single nucleotide polymorphisms assessed were associated with changes in motor progression in this same group.
|
31724242 |
2020 |
|
Impaired cognition
|
|
0.010 |
GeneticVariation
|
BEFREE |
We also found that the TREM2 R47H gene variant was associated with changes in cognitive decline in the large cohort of HD patients, whereas 2 of 3 TLR4 single nucleotide polymorphisms assessed were associated with changes in motor progression in this same group.
|
31724242 |
2020 |
|
Primary Progressive Aphasia (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
Rare risk variants, TREM2 R47H and MAPT A152T, were associated with a three- to seven-fold increase in risk for PPA.
|
30599136 |
2019 |
|
GRN-related frontotemporal dementia
|
|
0.010 |
GeneticVariation
|
BEFREE |
The rs75932628 and rs2234253 polymorphisms of the TREM2 gene were associated with susceptibility to frontotemporal lobar degeneration in Caucasian populations.
|
29322490 |
2018 |
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
|
|
0.010 |
GeneticVariation
|
BEFREE |
In contrast, CSF sTREM2 levels were significantly higher in R47H carriers compared to non-carriers (P = 6×10(-3)), suggesting that this variant does not impact protein expression and increases AD risk through a different pathogenic mechanism than NHD variants.
|
26754641 |
2016 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.010 |
GeneticVariation
|
BEFREE |
These estimates are high in comparison with those for other complex diseases for which more risk loci have been discovered, such as type 2 diabetes, which is mostly a result of the strong effect of APOE ɛ4 and to a lesser extent the rare variant TREM2 p.Arg47His.
|
27302364 |
2016 |
|
Essential Tremor
|
|
0.010 |
GeneticVariation
|
BEFREE |
However, taking into account the very low frequency of p.R47H, further confirmatory analyses of larger ET series are needed.
|
25585992 |
2015 |
|
Psychiatric symptom
|
|
0.010 |
GeneticVariation
|
BEFREE |
Spanish AD TREM2 p.R47H carriers showed apraxia (9 of 9) and psychiatric symptoms such as personality changes, anxiety, paranoia, or fears more frequently than in AD noncarriers (corrected p = 0.039).
|
25027412 |
2014 |
|
Apraxias
|
|
0.010 |
GeneticVariation
|
BEFREE |
Spanish AD TREM2 p.R47H carriers showed apraxia (9 of 9) and psychiatric symptoms such as personality changes, anxiety, paranoia, or fears more frequently than in AD noncarriers (corrected p = 0.039).
|
25027412 |
2014 |
|
Creutzfeldt-Jakob disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We used next generation sequencing of the whole gene (n = 700), exon 2 Sanger sequencing (n = 2634), p.R47H genotyping (n = 3518), and genome wide association study imputation (n = 13,048) to determine whether TREM2 variants are risk factors or phenotypic modifiers in patients with AD (n = 1002), frontotemporal dementia (n = 358), sporadic (n = 2500), and variant (n = 115) Creutzfeldt-Jakob disease (CJD).
|
25160042 |
2014 |
|
Personality Change
|
|
0.010 |
GeneticVariation
|
BEFREE |
Spanish AD TREM2 p.R47H carriers showed apraxia (9 of 9) and psychiatric symptoms such as personality changes, anxiety, paranoia, or fears more frequently than in AD noncarriers (corrected p = 0.039).
|
25027412 |
2014 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
|
0.010 |
GeneticVariation
|
BEFREE |
TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis.
|
24535663 |
2014 |
|
Sporadic CJD
|
|
0.010 |
GeneticVariation
|
BEFREE |
We confirm only p.R47H as a risk factor for AD (odds ratio or OR = 2.19; 95% confidence interval or CI = 1.04-4.51; P = .03). p.R47H does not significantly alter risk for frontotemporal dementia (OR = 0.81), variant or sporadic CJD (OR = 1.06 95%CI = 0.66-1.69) in our cohorts.
|
25160042 |
2014 |
|
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 |
|
Frontotemporal Lobar Degeneration
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our findings identified the rs75932628 and rs2234253 polymorphisms of the TREM2 gene as risk factors for FTLD in Caucasian populations.
|
29322490 |
2018 |
|
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 |
|
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 |
|
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 |
|
Mild cognitive disorder
|
|
0.020 |
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 |
|
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 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 |