Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75932628
rs75932628
0.900 GeneticVariation BEFREE Our results support the consensus that the R47H variant is significantly associated with AD. 31513029

2020

dbSNP: rs75932628
rs75932628
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

dbSNP: rs75932628
rs75932628
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

dbSNP: rs75932628
rs75932628
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

dbSNP: rs75932628
rs75932628
0.900 GeneticVariation BEFREE We generated transgenic mice expressing human CV or R47H TREM2 and lacking endogenous TREM2 in the 5XFAD AD model. 29321225

2018

dbSNP: rs75932628
rs75932628
0.900 GeneticVariation BEFREE Two DS cases had the AD-associated TREM2-R47H mutation, which manifested a morphologically extreme phenotype of megakaryocytes and erythrocytes in addition to impaired trafficking of TREM2 to the erythroid membrane. 29278889

2018

dbSNP: rs75932628
rs75932628
0.900 GeneticVariation BEFREE Molecular basis for the loss-of-function effects of the Alzheimer's disease-associated R47H variant of the immune receptor TREM2. 29794134

2018

dbSNP: rs75932628
rs75932628
0.900 GeneticVariation BEFREE Lymphoblast-derived integration-free iPSC line AD-TREM2-3 from a 74 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant. 29902745

2018

dbSNP: rs75932628
rs75932628
0.900 GeneticVariation BEFREE Lymphoblast-derived integration-free iPSC line AD-TREM2-1 from a 67year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant. 29602048

2018

dbSNP: rs75932628
rs75932628
0.900 GeneticVariation BEFREE Mouse models accurately reproducing phenotypes observed in Alzheimer' disease patients carrying the R47H coding variant are required to understand the TREM2 related dysfunctions responsible for the enhanced risk for late onset Alzheimer's disease. 30185230

2018

dbSNP: rs75932628
rs75932628
0.900 GeneticVariation BEFREE Moreover, the rare TREM2 variant (p.Arg47His), which was considered to be a risk factor for Alzheimer's disease in European descent populations, was not detected in our cohort. 29723869

2018

dbSNP: rs75932628
rs75932628
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

dbSNP: rs75932628
rs75932628
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

dbSNP: rs75932628
rs75932628
0.900 GeneticVariation BEFREE Lymphoblast-derived integration-free iPS cell line from a female 67-year-old Alzheimer's disease patient with TREM2 (R47H) missense mutation. 27789408

2016

dbSNP: rs75932628
rs75932628
0.900 GeneticVariation BEFREE Two rare variants have been nominally associated with AD risk or protection (TREM2 p.R47H, MAF approximately 0.002, OR approximately 4 and APP p.A673T, MAF approximately 0.0005, OR approximately 0.2). 28002825

2016

dbSNP: rs75932628
rs75932628
0.900 GeneticVariation BEFREE The different biochemical characteristics of TREM2 R47H, including glycosylation, solubility and processing, may offer insights into a future therapeutic strategy for AD. 28149270

2016

dbSNP: rs75932628
rs75932628
0.900 GeneticVariation BEFREE Expression and processing analyses of wild type and p.R47H TREM2 variant in Alzheimer's disease brains. 27887626

2016

dbSNP: rs75932628
rs75932628
0.900 GeneticVariation BEFREE Our study suggests that Vps35/retromer is responsible for recycling of Trem2 in the regulation of microglial function such as proinflammatory responses, whereas R47H mutation impairs Trem2 trafficking, which might contribute to AD. 27717139

2016

dbSNP: rs75932628
rs75932628
0.900 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
0.900 GeneticVariation BEFREE Recent genome-wide association studies revealed TREM2 rs75932628-T variant to be associated with Alzheimer's disease (AD) and other neurodegenerative diseases. 27051467

2016

dbSNP: rs75932628
rs75932628
0.900 GeneticVariation BEFREE Lymphoblast-derived integration-free iPS cell line from a 65-year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant. 27345793

2016

dbSNP: rs75932628
rs75932628
0.900 GeneticVariation BEFREE A rare TREM2 missense mutation (rs75932628-T) was reported to confer a significant Alzheimer's disease (AD) risk. 26365049

2016

dbSNP: rs75932628
rs75932628
0.900 GeneticVariation BEFREE TREM2 encodes a cell surface receptor expressed on microglia and related cells, and the R47H variant associated with AD appears to affect the ability of TREM2 to bind extracellular ligands. 27589997

2016

dbSNP: rs75932628
rs75932628
0.900 GeneticVariation BEFREE Two recent studies have identified that a rare coding variant (p.R47H) in exon 2 of triggering receptor expressed on myeloid cells 2 (TREM2) gene is associated with Alzheimer's disease (AD) susceptibility in Caucasians. 27067662

2016

dbSNP: rs75932628
rs75932628
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