Disease: Frontotemporal dementia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75932628
rs75932628
Entrez Id: 54209;105375056
Gene Symbol: TREM2;LOC105375056
TREM2;LOC105375056
CUI: C0338451
Disease:
Frontotemporal dementia 		0.060 GeneticVariation BEFREE The previously reported functional mutation rs75932628-T (p.R47H) in the triggering receptor expressed on myeloid cells 2 (TREM2) is a genetic risk factor for Alzheimer's disease, Parkinson's disease (PD) and frontotemporal dementia, in European populations. 26758262 2016
dbSNP: rs75932628
rs75932628
Entrez Id: 54209;105375056
Gene Symbol: TREM2;LOC105375056
TREM2;LOC105375056
CUI: C0338451
Disease:
Frontotemporal dementia 		0.060 GeneticVariation BEFREE None of the rare variants individually reached significant association, but the frequency of p.R47H was increased ~ 3-fold in both AD and FTD patients compared to controls, in line with previous reports. 24119542 2014
dbSNP: rs75932628
rs75932628
Entrez Id: 54209;105375056
Gene Symbol: TREM2;LOC105375056
TREM2;LOC105375056
CUI: C0338451
Disease:
Frontotemporal dementia 		0.060 GeneticVariation BEFREE These data strongly support the important role of p.R47H in AD risk, and suggest that this rare genetic variant is not related to FTD. 24041969 2014
dbSNP: rs75932628
rs75932628
Entrez Id: 54209;105375056
Gene Symbol: TREM2;LOC105375056
TREM2;LOC105375056
CUI: C0338451
Disease:
Frontotemporal dementia 		0.060 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
dbSNP: rs75932628
rs75932628
Entrez Id: 54209;105375056
Gene Symbol: TREM2;LOC105375056
TREM2;LOC105375056
CUI: C0338451
Disease:
Frontotemporal dementia 		0.060 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
dbSNP: rs75932628
rs75932628
Entrez Id: 54209;105375056
Gene Symbol: TREM2;LOC105375056
TREM2;LOC105375056
CUI: C0338451
Disease:
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
dbSNP: rs753325601
rs753325601
Entrez Id: 54209;105375056
Gene Symbol: TREM2;LOC105375056
TREM2;LOC105375056
CUI: C0338451
Disease:
Frontotemporal dementia 		0.010 GeneticVariation BEFREE Given recent findings of enrichment of rare TREM2 variants (including R47C) in Alzheimer's disease, it is notable that we detected a homozygous TREM2 R47C carrier presenting with an FTD rather than an Alzheimer's disease phenotype. 29748150 2018
dbSNP: rs201258663
rs201258663
Entrez Id: 54209;105375056
Gene Symbol: TREM2;LOC105375056
TREM2;LOC105375056
CUI: C0338451
Disease:
Frontotemporal dementia 		0.010 GeneticVariation BEFREE The FTD-like syndrome causing TREM2 T66M mutation impairs microglia function, brain perfusion, and glucose metabolism. 28559417 2017
dbSNP: rs2234253
rs2234253
Entrez Id: 54209;105375056
Gene Symbol: TREM2;LOC105375056
TREM2;LOC105375056
CUI: C0338451
Disease:
Frontotemporal dementia 		0.010 GeneticVariation BEFREE The present findings provide evidence that p.T96K is associated with FTD-S and that p.L211P may contribute to its pathogenic effect. 25042114 2014
dbSNP: rs2234256
rs2234256
Entrez Id: 54209;340205;105375056
Gene Symbol: TREM2;TREML1;LOC105375056
TREM2;TREML1;LOC105375056
CUI: C0338451
Disease:
Frontotemporal dementia 		0.010 GeneticVariation BEFREE The present findings provide evidence that p.T96K is associated with FTD-S and that p.L211P may contribute to its pathogenic effect. 25042114 2014