Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: 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 Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.020 GeneticVariation BEFREE TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease. 23380991 2013
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
0.080 GeneticVariation BEFREE Our findings suggest that the rs75932628-T variant of TREM2 is an important risk factor for LOAD in the Colombian population. 30222607 2019
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
0.080 GeneticVariation BEFREE We did not find an association between the rs75932628</span> single nucleotide polymorphism of TREM2 and LOAD in this study. 29256968 2018
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: 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
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
0.080 GeneticVariation BEFREE Only the rs75932628-T variant (predicted to cause an R47H substitution) conferred a significant risk for early-onset AD (OR, 4.07; 95% CI, 1.3 to 16.9; p = 0.009). 23380991 2013
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
0.080 GeneticVariation BEFREE Here, we present more evidence for the association of the R47H with LOAD risk in a Caucasian population comprising 4567 LOAD cases and controls. 26058841 2015
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
0.080 GeneticVariation BEFREE Recent works have demonstrated a rare functional variant (R47H) in triggering receptor expressed on myeloid cells (TREM) 2 gene, encoding TREM2 protein, increase susceptibility to late-onset Alzheimer's disease (AD), with an odds ratio similar to that of the apolipoprotein E ε4 allele. 23407992 2013
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
0.080 GeneticVariation BEFREE The R47H TREM2 variant is a significant risk factor for late-onset Alzheimer's disease (AD), and the molecular basis of R47H TREM2 loss of function is an emerging area of TREM2 biology. 29794134 2018
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
0.080 GeneticVariation BEFREE The R47H variant of the Triggering Receptor Expressed on Myeloid cells 2 (TREM2) significantly increases the risk for late onset Alzheimer's disease. 30185230 2018
Alzheimer's Disease
CUI: C0002395
Disease: 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
CUI: C0002395
Disease: 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
CUI: C0002395
Disease: 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
Alzheimer's Disease
CUI: C0002395
Disease: 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
CUI: C0002395
Disease: 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
CUI: C0002395
Disease: 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
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE Three variants in TREM2 (rs75932628 (R47H), rs2234255 (H157Y), and rs143332484 (R62H)) were significantly associated with AD risk, but the similar associations between rs104894002 (Q33X), rs2234253 (T96K), rs142232675 (D87N), rs2234256 (L211P), and AD were not proven. 30883352 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE Shedding is not altered for the R47H-mutated TREM2 protein that confers an increased risk for the development of Alzheimers disease. 28923481 2017
Alzheimer's Disease
CUI: C0002395
Disease: 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
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE These data suggest that the AD-associated TREM2 R47H variant increases risk for AD by conferring a loss of TREM2 function and enhancing neuritic dystrophy around plaques. 29859094 2018
Alzheimer's Disease
CUI: C0002395
Disease: 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
CUI: C0002395
Disease: 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
CUI: C0002395
Disease: Alzheimer's Disease
0.900 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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.900 GeneticVariation BEFREE The rare variant R47H TREM2 is associated with an increased risk for Alzheimer's disease, supporting the hypothesis that TREM2 loss of function may exacerbate disease progression. 29599291 2018
Alzheimer's Disease
CUI: C0002395
Disease: 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