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Volumn 72, Issue 8, 2015, Pages 920-927

R47H variant of TREM2 associated with Alzheimer disease in a large late-onset family clinical, genetic, and neuropathological study

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; CALCIUM BINDING PROTEIN; IONIZED CALCIUM BINDING ADAPTER MOLECULE 1; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; TAR DNA BINDING PROTEIN; UNCLASSIFIED DRUG; IMMUNOGLOBULIN RECEPTOR; MEMBRANE PROTEIN; TREM2 PROTEIN, HUMAN;

EID: 84938912653     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2015.0979     Document Type: Article
Times cited : (114)

References (38)
  • 1
    • 0033358671 scopus 로고    scopus 로고
    • Early-onset autosomal dominant Alzheimer disease: Prevalence, genetic heterogeneity, and mutation spectrum
    • Campion D, Dumanchin C, Hannequin D, et al. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet. 1999;65(3): 664-670.
    • (1999) Am J Hum Genet. , vol.65 , Issue.3 , pp. 664-670
    • Campion, D.1    Dumanchin, C.2    Hannequin, D.3
  • 2
    • 14544286348 scopus 로고    scopus 로고
    • Genetic factors in Alzheimer's disease
    • Bird TD. Genetic factors in Alzheimer's disease. N Engl J Med. 2005;352(9):862-864.
    • (2005) N Engl J Med. , vol.352 , Issue.9 , pp. 862-864
    • Bird, T.D.1
  • 3
    • 0037116658 scopus 로고    scopus 로고
    • Risk of dementia among white and African American relatives of patients with Alzheimer disease
    • Green RC, Cupples LA, Go R, et al; MIRAGE Study Group. Risk of dementia among white and African American relatives of patients with Alzheimer disease. JAMA. 2002;287(3):329-336.
    • (2002) JAMA. , vol.287 , Issue.3 , pp. 329-336
    • Green, R.C.1    Cupples, L.A.2    Go, R.3
  • 4
    • 3442877311 scopus 로고    scopus 로고
    • Estimating risk curves for first-degree relatives of patients with Alzheimer's disease: The REVEAL study
    • Cupples LA, Farrer LA, Sadovnick AD, Relkin N, Whitehouse P, Green RC. Estimating risk curves for first-degree relatives of patients with Alzheimer's disease: the REVEAL study. Genet Med. 2004;6(4): 192-196.
    • (2004) Genet Med. , vol.6 , Issue.4 , pp. 192-196
    • Cupples, L.A.1    Farrer, L.A.2    Sadovnick, A.D.3    Relkin, N.4    Whitehouse, P.5    Green, R.C.6
  • 5
    • 33645760494 scopus 로고    scopus 로고
    • Potentially modifiable risk factors for dementia in identical twins
    • Gatz M, Mortimer JA, Fratiglioni L, et al. Potentially modifiable risk factors for dementia in identical twins. Alzheimers Dement. 2006;2(2):110-117.
    • (2006) Alzheimers Dement. , vol.2 , Issue.2 , pp. 110-117
    • Gatz, M.1    Mortimer, J.A.2    Fratiglioni, L.3
  • 6
    • 84872088087 scopus 로고    scopus 로고
    • Variant of TREM2 associated with the risk of Alzheimer's disease
    • Jonsson T, Stefansson H, Ph DS, et al. Variant of TREM2 associated with the risk of Alzheimer's disease. N Engl J Med. 2013;368(2):107-116.
    • (2013) N Engl J Med. , vol.368 , Issue.2 , pp. 107-116
    • Jonsson, T.1    Stefansson, H.2
  • 7
    • 84872057940 scopus 로고    scopus 로고
    • TREM2 variants in Alzheimer's disease
    • Guerreiro R, Wojtas A, Bras J, et al; Alzheimer Genetic Analysis Group. TREM2 variants in Alzheimer's disease. N Engl J Med. 2013;368(2):117-127.
    • (2013) N Engl J Med. , vol.368 , Issue.2 , pp. 117-127
    • Guerreiro, R.1    Wojtas, A.2    Bras, J.3
  • 8
    • 84921984443 scopus 로고    scopus 로고
    • The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk
    • Hooli BV, Parrado AR, Mullin K, et al. The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk. Neurology. 2014;83(15): 1353-1358.
    • (2014) Neurology. , vol.83 , Issue.15 , pp. 1353-1358
    • Hooli, B.V.1    Parrado, A.R.2    Mullin, K.3
  • 9
    • 0032507032 scopus 로고    scopus 로고
    • The APOE-epsilon4 allele and the risk of Alzheimer disease among African Americans, whites, and Hispanics
    • Tang MX, Stern Y, Marder K, et al. The APOE-epsilon4 allele and the risk of Alzheimer disease among African Americans, whites, and Hispanics. JAMA. 1998;279(10):751-755.
    • (1998) JAMA. , vol.279 , Issue.10 , pp. 751-755
    • Tang, M.X.1    Stern, Y.2    Marder, K.3
  • 10
    • 84881230554 scopus 로고    scopus 로고
    • Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)
    • Korvatska O, Strand NS, Berndt JD, et al. Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Hum Mol Genet. 2013;22(16):3259-3268.
    • (2013) Hum Mol Genet. , vol.22 , Issue.16 , pp. 3259-3268
    • Korvatska, O.1    Strand, N.S.2    Berndt, J.D.3
  • 11
    • 84873731200 scopus 로고    scopus 로고
    • Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder
    • Girirajan S, Dennis MY, Baker C, et al. Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Am J Hum Genet. 2013;92(2): 221-237.
    • (2013) Am J Hum Genet. , vol.92 , Issue.2 , pp. 221-237
    • Girirajan, S.1    Dennis, M.Y.2    Baker, C.3
  • 12
    • 80052260252 scopus 로고    scopus 로고
    • A copy number variation morbidity map of developmental delay
    • Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2011;43(9):838-846.
    • (2011) Nat Genet. , vol.43 , Issue.9 , pp. 838-846
    • Cooper, G.M.1    Coe, B.P.2    Girirajan, S.3
  • 13
    • 84903627137 scopus 로고    scopus 로고
    • Alzheimer's disease genetics: From the bench to the clinic
    • Karch CM, Cruchaga C, Goate AM. Alzheimer's disease genetics: from the bench to the clinic. Neuron. 2014;83(1):11-26.
    • (2014) Neuron. , vol.83 , Issue.1 , pp. 11-26
    • Karch, C.M.1    Cruchaga, C.2    Goate, A.M.3
  • 14
    • 84937526426 scopus 로고    scopus 로고
    • A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death
    • Wetzel-Smith MK, Hunkapiller J, Bhangale TR, et al; Alzheimer's Disease Genetics Consortium. A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death. Nat Med. 2014;20(12):1452-1457.
    • (2014) Nat Med. , vol.20 , Issue.12 , pp. 1452-1457
    • Wetzel-Smith, M.K.1    Hunkapiller, J.2    Bhangale, T.R.3
  • 15
    • 0025863618 scopus 로고
    • Neuropathological stageing of Alzheimer-related changes
    • Braak H, Braak E. Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol. 1991;82(4):239-259.
    • (1991) Acta Neuropathol. , vol.82 , Issue.4 , pp. 239-259
    • Braak, H.1    Braak, E.2
  • 16
    • 0030660332 scopus 로고    scopus 로고
    • A commentary on the diagnostic criteria for the neuropathological assessment of Alzheimer's disease
    • Mann DM. A commentary on the diagnostic criteria for the neuropathological assessment of Alzheimer's disease. Neurobiol Aging. 1997;18(4) (suppl):S51-S52.
    • (1997) Neurobiol Aging. , vol.18 , Issue.4 , pp. S51-S52
    • Mann, D.M.1
  • 17
    • 0025908356 scopus 로고
    • The Consortium to Establish a Registry for Alzheimer's Disease (CERAD), part II: Standardization of the neuropathologic assessment of Alzheimer's disease
    • Mirra SS, Heyman A, McKeel D, et al. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD), part II: standardization of the neuropathologic assessment of Alzheimer's disease. Neurology. 1991;41(4):479-486.
    • (1991) Neurology. , vol.41 , Issue.4 , pp. 479-486
    • Mirra, S.S.1    Heyman, A.2    McKeel, D.3
  • 18
    • 84889590173 scopus 로고    scopus 로고
    • Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia
    • Cuyvers E, Bettens K, Philtjens S, et al; BELNEU Consortium. Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia. Neurobiol Aging. 2014;35(3):726.e11-29.
    • (2014) Neurobiol Aging. , vol.35 , Issue.3 , pp. 726e11-72629
    • Cuyvers, E.1    Bettens, K.2    Philtjens, S.3
  • 19
    • 84927137044 scopus 로고    scopus 로고
    • R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia
    • Slattery CF, Beck JA, Harper L, et al. R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia. Alzheimers Dement. 2014;10(6):602-608.e4.
    • (2014) Alzheimers Dement. , vol.10 , Issue.6 , pp. 602-602e4
    • Slattery, C.F.1    Beck, J.A.2    Harper, L.3
  • 20
    • 84879113935 scopus 로고    scopus 로고
    • TREM2 in neurodegeneration: Evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease
    • Rayaprolu S, Mullen B, Baker M, et al. TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease. Mol Neurodegener. 2013;8:19.
    • (2013) Mol Neurodegener. , vol.8 , pp. 19
    • Rayaprolu, S.1    Mullen, B.2    Baker, M.3
  • 21
    • 84897398469 scopus 로고    scopus 로고
    • TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis
    • Cady J, Koval ED, Benitez BA, et al. TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis. JAMA Neurol. 2014;71 (4):449-453.
    • (2014) JAMA Neurol. , vol.71 , Issue.4 , pp. 449-453
    • Cady, J.1    Koval, E.D.2    Benitez, B.A.3
  • 22
    • 84904479732 scopus 로고    scopus 로고
    • TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis
    • Kleinberger G, Yamanishi Y, Suárez-Calvet M, et al. TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis. Sci Transl Med. 2014;6(243): 243ra86.
    • (2014) Sci Transl Med. , vol.6 , Issue.243 , pp. 243ra86
    • Kleinberger, G.1    Yamanishi, Y.2    Suárez-Calvet, M.3
  • 23
    • 84925464993 scopus 로고    scopus 로고
    • TREM2 lipid sensing sustains the microglial response in an Alzheimer's disease model
    • Wang Y, Cella M, Mallinson K, et al. TREM2 lipid sensing sustains the microglial response in an Alzheimer's disease model. Cell. 2015;160(6):1061-1071.
    • (2015) Cell. , vol.160 , Issue.6 , pp. 1061-1071
    • Wang, Y.1    Cella, M.2    Mallinson, K.3
  • 24
    • 18544390923 scopus 로고    scopus 로고
    • Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype
    • Paloneva J, Manninen T, Christman G, et al. Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. Am J Hum Genet. 2002;71(3): 656-662.
    • (2002) Am J Hum Genet. , vol.71 , Issue.3 , pp. 656-662
    • Paloneva, J.1    Manninen, T.2    Christman, G.3
  • 25
    • 84872586508 scopus 로고    scopus 로고
    • Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement
    • Guerreiro RJ, Lohmann E, Brás JM, et al. Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol. 2013;70(1):78-84.
    • (2013) JAMA Neurol. , vol.70 , Issue.1 , pp. 78-84
    • Guerreiro, R.J.1    Lohmann, E.2    Brás, J.M.3
  • 26
    • 84903776641 scopus 로고    scopus 로고
    • Homozygous TREM2 mutation in a family with atypical frontotemporal dementia
    • Le Ber I, De Septenville A, Guerreiro R, et al. Homozygous TREM2 mutation in a family with atypical frontotemporal dementia. Neurobiol Aging. 2014;35(10):2419.e23-5.
    • (2014) Neurobiol Aging. , vol.35 , Issue.10 , pp. 2419e23-24195e23
    • Le Ber, I.1    De Septenville, A.2    Guerreiro, R.3
  • 27
    • 84875261136 scopus 로고    scopus 로고
    • TREM2 is associated with the risk of Alzheimer's disease in Spanish population
    • Benitez BA, Cooper B, Pastor P, et al. TREM2 is associated with the risk of Alzheimer's disease in Spanish population. Neurobiol Aging. 2013;34(6): 1711.e15-7.
    • (2013) Neurobiol Aging. , vol.34 , Issue.6 , pp. 1711e15-17117e15
    • Benitez, B.A.1    Cooper, B.2    Pastor, P.3
  • 28
    • 84876398977 scopus 로고    scopus 로고
    • TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease
    • Pottier C, Wallon D, Rousseau S, et al. TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease. J Alzheimers Dis. 2013;35(1): 45-49.
    • (2013) J Alzheimers Dis. , vol.35 , Issue.1 , pp. 45-49
    • Pottier, C.1    Wallon, D.2    Rousseau, S.3
  • 29
    • 84882794566 scopus 로고    scopus 로고
    • Role of AIF-1 in the regulation of inflammatory activation and diverse disease processes
    • Zhao YY, Yan DJ, Chen ZW. Role of AIF-1 in the regulation of inflammatory activation and diverse disease processes. Cell Immunol. 2013;284(1-2):75-83.
    • (2013) Cell Immunol. , vol.284 , Issue.1-2 , pp. 75-83
    • Zhao, Y.Y.1    Yan, D.J.2    Chen, Z.W.3
  • 30
    • 84933509452 scopus 로고    scopus 로고
    • Loss of Allograft inflammatory factor-1 ameliorates experimental autoimmune encephalomyelitis by limiting encephalitogenic CD4 T cell expansion [published online January 6, 2015]
    • Chinnasamy P, Lutz SE, Riascos-Bernal DF, et al. Loss of Allograft inflammatory factor-1 ameliorates experimental autoimmune encephalomyelitis by limiting encephalitogenic CD4 T cell expansion [published online January 6, 2015]. Mol Med. doi:10.2119/molmed.2014.00264.
    • Mol Med.
    • Chinnasamy, P.1    Lutz, S.E.2    Riascos-Bernal, D.F.3
  • 31
    • 10744228559 scopus 로고    scopus 로고
    • Identification of cathepsin B as a mediator of neuronal death induced by Abeta-activated microglial cells using a functional genomics approach
    • Gan L, Ye S, Chu A, et al. Identification of cathepsin B as a mediator of neuronal death induced by Abeta-activated microglial cells using a functional genomics approach. J Biol Chem. 2004;279(7):5565-5572.
    • (2004) J Biol Chem. , vol.279 , Issue.7 , pp. 5565-5572
    • Gan, L.1    Ye, S.2    Chu, A.3
  • 32
    • 84878243515 scopus 로고    scopus 로고
    • A phenotypic change but not proliferation underlies glial responses in Alzheimer disease
    • Serrano-Pozo A, Gómez-Isla T, Growdon JH, Frosch MP, Hyman BT. A phenotypic change but not proliferation underlies glial responses in Alzheimer disease. Am J Pathol. 2013;182(6):2332-2344.
    • (2013) Am J Pathol. , vol.182 , Issue.6 , pp. 2332-2344
    • Serrano-Pozo, A.1    Gómez-Isla, T.2    Growdon, J.H.3    Frosch, M.P.4    Hyman, B.T.5
  • 33
    • 84924737031 scopus 로고    scopus 로고
    • TREM2 deficiency eliminates TREM2+ inflammatory macrophages and ameliorates pathology in Alzheimer's disease mouse models
    • Jay TR, Miller CM, Cheng PJ, et al. TREM2 deficiency eliminates TREM2+ inflammatory macrophages and ameliorates pathology in Alzheimer's disease mouse models. J Exp Med. 2015;212(3):287-295.
    • (2015) J Exp Med. , vol.212 , Issue.3 , pp. 287-295
    • Jay, T.R.1    Miller, C.M.2    Cheng, P.J.3
  • 34
    • 0037205427 scopus 로고    scopus 로고
    • Macrophage/microglia-specific protein Iba1 enhances membrane ruffling and Rac activation via phospholipase C-gamma-dependent pathway
    • Kanazawa H, Ohsawa K, Sasaki Y, Kohsaka S, Imai Y. Macrophage/microglia-specific protein Iba1 enhances membrane ruffling and Rac activation via phospholipase C-gamma-dependent pathway. J Biol Chem. 2002;277(22):20026-20032.
    • (2002) J Biol Chem. , vol.277 , Issue.22 , pp. 20026-20032
    • Kanazawa, H.1    Ohsawa, K.2    Sasaki, Y.3    Kohsaka, S.4    Imai, Y.5
  • 35
    • 84923444904 scopus 로고    scopus 로고
    • Innate immunity in Alzheimer's disease
    • Heneka MT, Golenbock DT, Latz E. Innate immunity in Alzheimer's disease. Nat Immunol. 2015;16(3):229-236.
    • (2015) Nat Immunol. , vol.16 , Issue.3 , pp. 229-236
    • Heneka, M.T.1    Golenbock, D.T.2    Latz, E.3
  • 36
    • 84876006819 scopus 로고    scopus 로고
    • Functional impairment of microglia coincides with Beta-amyloid deposition in mice with Alzheimer-like pathology
    • Krabbe G, Halle A, Matyash V, et al. Functional impairment of microglia coincides with Beta-amyloid deposition in mice with Alzheimer-like pathology. PLoS One. 2013;8(4): e60921.
    • (2013) PLoS One. , vol.8 , Issue.4 , pp. e60921
    • Krabbe, G.1    Halle, A.2    Matyash, V.3
  • 37
    • 84883315336 scopus 로고    scopus 로고
    • Inflammatory components in human Alzheimer's disease and after active amyloid-β42 immunization
    • Zotova E, Bharambe V, Cheaveau M, et al. Inflammatory components in human Alzheimer's disease and after active amyloid-β42 immunization. Brain. 2013;136(pt 9):2677-2696.
    • (2013) Brain. , vol.136 , pp. 2677-2696
    • Zotova, E.1    Bharambe, V.2    Cheaveau, M.3
  • 38
    • 67649205726 scopus 로고    scopus 로고
    • Macrophage colony-stimulating factor induces the proliferation and survival of macrophages via a pathway involving DAP12 and beta-catenin
    • Otero K, Turnbull IR, Poliani PL, et al. Macrophage colony-stimulating factor induces the proliferation and survival of macrophages via a pathway involving DAP12 and beta-catenin. Nat Immunol. 2009;10(7):734-743.
    • (2009) Nat Immunol. , vol.10 , Issue.7 , pp. 734-743
    • Otero, K.1    Turnbull, I.R.2    Poliani, P.L.3


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