메뉴 건너뛰기




Volumn 13, Issue 6, 2017, Pages 663-673

A candidate regulatory variant at the TREM gene cluster associates with decreased Alzheimer's disease risk and increased TREML1 and TREM2 brain gene expression

(30)  Carrasquillo, Minerva M a   Allen, Mariet a   Burgess, Jeremy D a   Wang, Xue a   Strickland, Samantha L a   Aryal, Shivani a   Siuda, Joanna a   Kachadoorian, Michaela L a   Medway, Christopher a,b   Younkin, Curtis S a   Nair, Asha c   Wang, Chen c   Chanana, Pritha c   Serie, Daniel a   Nguyen, Thuy a   Lincoln, Sarah a   Malphrus, Kimberly G a   Morgan, Kevin b   Golde, Todd E d   Price, Nathan D e   more..


Author keywords

Alzheimer's disease; eQTL; Regulatory variant; TREM2; TREML1

Indexed keywords

AGED; ALZHEIMER DISEASE; ARTICLE; CEREBELLUM; ENDOPHENOTYPE; FEMALE; GENE; GENE CLUSTER; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; GENOME-WIDE ASSOCIATION STUDY; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; RNA REPLICATION; RNA SEQUENCE; TEMPORAL CORTEX; TREM GENE; TREML1 GENE; TREML2 GENE; GENE LINKAGE DISEQUILIBRIUM; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; META ANALYSIS; METABOLISM; MICROARRAY ANALYSIS; MULTIGENE FAMILY; TEMPORAL LOBE; VERY ELDERLY;

EID: 85011995307     PISSN: 15525260     EISSN: 15525279     Source Type: Journal    
DOI: 10.1016/j.jalz.2016.10.005     Document Type: Article
Times cited : (44)

References (36)
  • 3
    • 64049095240 scopus 로고    scopus 로고
    • TREM and TREM-like receptors in inflammation and disease
    • Ford, J.W., McVicar, D.W., TREM and TREM-like receptors in inflammation and disease. Curr Opin Immunol 21 (2009), 38–46.
    • (2009) Curr Opin Immunol , vol.21 , pp. 38-46
    • Ford, J.W.1    McVicar, D.W.2
  • 4
    • 84932645258 scopus 로고    scopus 로고
    • TREM2 and risk of Alzheimer's disease—friend or foe?
    • Tanzi, R.E., TREM2 and risk of Alzheimer's disease—friend or foe?. N Engl J Med 372 (2015), 2564–2565.
    • (2015) N Engl J Med , vol.372 , pp. 2564-2565
    • Tanzi, R.E.1
  • 6
    • 84875261136 scopus 로고    scopus 로고
    • TREM2 is associated with the risk of Alzheimer's disease in Spanish population
    • Benitez, B.A., Cooper, B., Pastor, P., Jin, S.C., Lorenzo, E., Cervantes, S., et al. TREM2 is associated with the risk of Alzheimer's disease in Spanish population. Neurobiol Aging 34 (2013), 1711.e15–1711.e17.
    • (2013) Neurobiol Aging , vol.34 , pp. 1711.e15-1711.e17
    • Benitez, B.A.1    Cooper, B.2    Pastor, P.3    Jin, S.C.4    Lorenzo, E.5    Cervantes, S.6
  • 7
    • 84884165090 scopus 로고    scopus 로고
    • Assessment of TREM2 rs75932628 association with Alzheimer's disease in a population-based sample: the Cache County Study
    • Gonzalez Murcia, J.D., Schmutz, C., Munger, C., Perkes, A., Gustin, A., Peterson, M., et al. Assessment of TREM2 rs75932628 association with Alzheimer's disease in a population-based sample: the Cache County Study. Neurobiol Aging 34 (2013), 2889.e11–2889.e13.
    • (2013) Neurobiol Aging , vol.34 , pp. 2889.e11-2889.e13
    • Gonzalez Murcia, J.D.1    Schmutz, C.2    Munger, C.3    Perkes, A.4    Gustin, A.5    Peterson, M.6
  • 8
    • 84887219737 scopus 로고    scopus 로고
    • Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia
    • Ruiz, A., Dols-Icardo, O., Bullido, M.J., Pastor, P., Rodriguez-Rodriguez, E., Lopez de Munain, A., et al. Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia. Neurobiol Aging 35 (2014), 444.e1–444.e4.
    • (2014) Neurobiol Aging , vol.35 , pp. 444.e1-444.e4
    • Ruiz, A.1    Dols-Icardo, O.2    Bullido, M.J.3    Pastor, P.4    Rodriguez-Rodriguez, E.5    Lopez de Munain, A.6
  • 9
    • 84921984443 scopus 로고    scopus 로고
    • The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk
    • Hooli, B.V., Parrado, A.R., Mullin, K., Yip, W.K., Liu, T., Roehr, J.T., et al. The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk. Neurology 83 (2014), 1353–1358.
    • (2014) Neurology , vol.83 , pp. 1353-1358
    • Hooli, B.V.1    Parrado, A.R.2    Mullin, K.3    Yip, W.K.4    Liu, T.5    Roehr, J.T.6
  • 10
    • 84952631227 scopus 로고    scopus 로고
    • The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease
    • Lill, C.M., Rengmark, A., Pihlstrom, L., Fogh, I., Shatunov, A., Sleiman, P.M., et al. The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease. Alzheimers Dement 11 (2015), 1407–1416.
    • (2015) Alzheimers Dement , vol.11 , pp. 1407-1416
    • Lill, C.M.1    Rengmark, A.2    Pihlstrom, L.3    Fogh, I.4    Shatunov, A.5    Sleiman, P.M.6
  • 11
    • 84903366979 scopus 로고    scopus 로고
    • Missense variant in TREML2 protects against Alzheimer's disease
    • Benitez, B.A., Jin, S.C., Guerreiro, R., Graham, R., Lord, J., Harold, D., et al. Missense variant in TREML2 protects against Alzheimer's disease. Neurobiol Aging 35 (2014), 1510.e19–1510.e26.
    • (2014) Neurobiol Aging , vol.35 , pp. 1510.e19-1510.e26
    • Benitez, B.A.1    Jin, S.C.2    Guerreiro, R.3    Graham, R.4    Lord, J.5    Harold, D.6
  • 12
    • 84888317489 scopus 로고    scopus 로고
    • Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
    • Lambert, J.C., Ibrahim-Verbaas, C.A., Harold, D., Naj, A.C., Sims, R., Bellenguez, C., et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet 45 (2013), 1452–1458.
    • (2013) Nat Genet , vol.45 , pp. 1452-1458
    • Lambert, J.C.1    Ibrahim-Verbaas, C.A.2    Harold, D.3    Naj, A.C.4    Sims, R.5    Bellenguez, C.6
  • 13
    • 84876786043 scopus 로고    scopus 로고
    • GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease
    • Cruchaga, C., Kauwe, J.S., Harari, O., Jin, S.C., Cai, Y., Karch, C.M., et al. GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron 78 (2013), 256–268.
    • (2013) Neuron , vol.78 , pp. 256-268
    • Cruchaga, C.1    Kauwe, J.S.2    Harari, O.3    Jin, S.C.4    Cai, Y.5    Karch, C.M.6
  • 14
    • 84923666918 scopus 로고    scopus 로고
    • A TREM1 variant alters the accumulation of Alzheimer-related amyloid pathology
    • Replogle, J.M., Chan, G., White, C.C., Raj, T., Winn, P.A., Evans, D.A., et al. A TREM1 variant alters the accumulation of Alzheimer-related amyloid pathology. Ann Neurol 77 (2015), 469–477.
    • (2015) Ann Neurol , vol.77 , pp. 469-477
    • Replogle, J.M.1    Chan, G.2    White, C.C.3    Raj, T.4    Winn, P.A.5    Evans, D.A.6
  • 15
    • 84942363875 scopus 로고    scopus 로고
    • No association of TREM1 rs6910730 and TREM2 rs7759295 with Alzheimer's disease
    • Liu, G., No association of TREM1 rs6910730 and TREM2 rs7759295 with Alzheimer's disease. Ann Neurol, 78, 2015, 659.
    • (2015) Ann Neurol , vol.78 , pp. 659
    • Liu, G.1
  • 16
    • 84865712382 scopus 로고    scopus 로고
    • Annotation of functional variation in personal genomes using RegulomeDB
    • Boyle, A.P., Hong, E.L., Hariharan, M., Cheng, Y., Schaub, M.A., Kasowski, M., et al. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res 22 (2012), 1790–1797.
    • (2012) Genome Res , vol.22 , pp. 1790-1797
    • Boyle, A.P.1    Hong, E.L.2    Hariharan, M.3    Cheng, Y.4    Schaub, M.A.5    Kasowski, M.6
  • 17
    • 84864066707 scopus 로고    scopus 로고
    • Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants
    • Zou, F., Chai, H.S., Younkin, C.S., Allen, M., Crook, J., Pankratz, V.S., et al. Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. PLoS Genet, 8, 2012, e1002707.
    • (2012) PLoS Genet , vol.8 , pp. e1002707
    • Zou, F.1    Chai, H.S.2    Younkin, C.S.3    Allen, M.4    Crook, J.5    Pankratz, V.S.6
  • 20
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: a tool set for whole-genome association and population-based linkage analyses
    • Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81 (2007), 559–575.
    • (2007) Am J Hum Genet , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3    Thomas, L.4    Ferreira, M.A.5    Bender, D.6
  • 21
    • 77955894071 scopus 로고    scopus 로고
    • METAL: fast and efficient meta-analysis of genomewide association scans
    • Willer, C.J., Li, Y., Abecasis, G.R., METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26 (2010), 2190–2191.
    • (2010) Bioinformatics , vol.26 , pp. 2190-2191
    • Willer, C.J.1    Li, Y.2    Abecasis, G.R.3
  • 23
    • 84976873328 scopus 로고    scopus 로고
    • HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease
    • Ward, L.D., Kellis, M., HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease. Nucleic Acids Res 44 (2016), D877–D881.
    • (2016) Nucleic Acids Res , vol.44 , pp. D877-D881
    • Ward, L.D.1    Kellis, M.2
  • 24
    • 84884155361 scopus 로고    scopus 로고
    • Insights into TREM2 biology by network analysis of human brain gene expression data
    • Forabosco, P., Ramasamy, A., Trabzuni, D., Walker, R., Smith, C., Bras, J., et al. Insights into TREM2 biology by network analysis of human brain gene expression data. Neurobiol Aging 34 (2013), 2699–2714.
    • (2013) Neurobiol Aging , vol.34 , pp. 2699-2714
    • Forabosco, P.1    Ramasamy, A.2    Trabzuni, D.3    Walker, R.4    Smith, C.5    Bras, J.6
  • 25
    • 84931401474 scopus 로고    scopus 로고
    • TREM2 protein expression changes correlate with Alzheimer's disease neurodegenerative pathologies in post-mortem temporal cortices
    • Lue, L.F., Schmitz, C.T., Serrano, G., Sue, L.I., Beach, T.G., Walker, D.G., TREM2 protein expression changes correlate with Alzheimer's disease neurodegenerative pathologies in post-mortem temporal cortices. Brain Pathol 25 (2015), 469–480.
    • (2015) Brain Pathol , vol.25 , pp. 469-480
    • Lue, L.F.1    Schmitz, C.T.2    Serrano, G.3    Sue, L.I.4    Beach, T.G.5    Walker, D.G.6
  • 26
    • 3843070946 scopus 로고    scopus 로고
    • A TREM family member, TLT-1, is found exclusively in the alpha-granules of megakaryocytes and platelets
    • Washington, A.V., Schubert, R.L., Quigley, L., Disipio, T., Feltz, R., Cho, E.H., et al. A TREM family member, TLT-1, is found exclusively in the alpha-granules of megakaryocytes and platelets. Blood 104 (2004), 1042–1047.
    • (2004) Blood , vol.104 , pp. 1042-1047
    • Washington, A.V.1    Schubert, R.L.2    Quigley, L.3    Disipio, T.4    Feltz, R.5    Cho, E.H.6
  • 27
    • 67651007340 scopus 로고    scopus 로고
    • TREM-like transcript-1 protects against inflammation-associated hemorrhage by facilitating platelet aggregation in mice and humans
    • Washington, A.V., Gibot, S., Acevedo, I., Gattis, J., Quigley, L., Feltz, R., et al. TREM-like transcript-1 protects against inflammation-associated hemorrhage by facilitating platelet aggregation in mice and humans. J Clin Invest 119 (2009), 1489–1501.
    • (2009) J Clin Invest , vol.119 , pp. 1489-1501
    • Washington, A.V.1    Gibot, S.2    Acevedo, I.3    Gattis, J.4    Quigley, L.5    Feltz, R.6
  • 28
    • 84862062690 scopus 로고    scopus 로고
    • Soluble TREM-like transcript-1 regulates leukocyte activation and controls microbial sepsis
    • Derive, M., Bouazza, Y., Sennoun, N., Marchionni, S., Quigley, L., Washington, V., et al. Soluble TREM-like transcript-1 regulates leukocyte activation and controls microbial sepsis. J Immunol 188 (2012), 5585–5592.
    • (2012) J Immunol , vol.188 , pp. 5585-5592
    • Derive, M.1    Bouazza, Y.2    Sennoun, N.3    Marchionni, S.4    Quigley, L.5    Washington, V.6
  • 29
    • 84904479732 scopus 로고    scopus 로고
    • TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis
    • Kleinberger, G., Yamanishi, Y., Suarez-Calvet, M., Czirr, E., Lohmann, E., Cuyvers, E., et al. TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis. Sci Transl Med, 6, 2014, 243ra286.
    • (2014) Sci Transl Med , vol.6 , pp. 243ra286
    • Kleinberger, G.1    Yamanishi, Y.2    Suarez-Calvet, M.3    Czirr, E.4    Lohmann, E.5    Cuyvers, E.6
  • 30
    • 84925464993 scopus 로고    scopus 로고
    • TREM2 lipid sensing sustains the microglial response in an Alzheimer's disease model
    • Wang, Y., Cella, M., Mallinson, K., Ulrich, J.D., Young, K.L., Robinette, M.L., et al. TREM2 lipid sensing sustains the microglial response in an Alzheimer's disease model. Cell 160 (2015), 1061–1071.
    • (2015) Cell , vol.160 , pp. 1061-1071
    • Wang, Y.1    Cella, M.2    Mallinson, K.3    Ulrich, J.D.4    Young, K.L.5    Robinette, M.L.6
  • 31
    • 84923346682 scopus 로고    scopus 로고
    • Triggering receptor expressed on myeloid cells 2 (TREM2) deficiency attenuates phagocytic activities of microglia and exacerbates ischemic damage in experimental stroke
    • Kawabori, M., Kacimi, R., Kauppinen, T., Calosing, C., Kim, J.Y., Hsieh, C.L., et al. Triggering receptor expressed on myeloid cells 2 (TREM2) deficiency attenuates phagocytic activities of microglia and exacerbates ischemic damage in experimental stroke. J Neurosci 35 (2015), 3384–3396.
    • (2015) J Neurosci , vol.35 , pp. 3384-3396
    • Kawabori, M.1    Kacimi, R.2    Kauppinen, T.3    Calosing, C.4    Kim, J.Y.5    Hsieh, C.L.6
  • 32
    • 84924737031 scopus 로고    scopus 로고
    • TREM2 deficiency eliminates TREM2+ inflammatory macrophages and ameliorates pathology in Alzheimer's disease mouse models
    • Jay, T.R., Miller, C.M., Cheng, P.J., Graham, L.C., Bemiller, S., Broihier, M.L., et al. TREM2 deficiency eliminates TREM2+ inflammatory macrophages and ameliorates pathology in Alzheimer's disease mouse models. J Exp Med 212 (2015), 287–295.
    • (2015) J Exp Med , vol.212 , pp. 287-295
    • Jay, T.R.1    Miller, C.M.2    Cheng, P.J.3    Graham, L.C.4    Bemiller, S.5    Broihier, M.L.6
  • 33
    • 78650666211 scopus 로고    scopus 로고
    • The role of the transcription factor CREB in immune function
    • Wen, A.Y., Sakamoto, K.M., Miller, L.S., The role of the transcription factor CREB in immune function. J Immunol 185 (2010), 6413–6419.
    • (2010) J Immunol , vol.185 , pp. 6413-6419
    • Wen, A.Y.1    Sakamoto, K.M.2    Miller, L.S.3
  • 34
    • 33846623798 scopus 로고    scopus 로고
    • Peroxisome proliferator-activated receptors as transcriptional nodal points and therapeutic targets
    • Brown, J.D., Plutzky, J., Peroxisome proliferator-activated receptors as transcriptional nodal points and therapeutic targets. Circulation 115 (2007), 518–533.
    • (2007) Circulation , vol.115 , pp. 518-533
    • Brown, J.D.1    Plutzky, J.2
  • 35
    • 84906901689 scopus 로고    scopus 로고
    • An RNA-sequencing transcriptome and splicing database of glia, neurons, and vascular cells of the cerebral cortex
    • Zhang, Y., Chen, K., Sloan, S.A., Bennett, M.L., Scholze, A.R., O'Keeffe, S., et al. An RNA-sequencing transcriptome and splicing database of glia, neurons, and vascular cells of the cerebral cortex. J Neurosci 34 (2014), 11929–11947.
    • (2014) J Neurosci , vol.34 , pp. 11929-11947
    • Zhang, Y.1    Chen, K.2    Sloan, S.A.3    Bennett, M.L.4    Scholze, A.R.5    O'Keeffe, S.6
  • 36
    • 33646485691 scopus 로고    scopus 로고
    • Trem-like transcript 2 is expressed on cells of the myeloid/granuloid and B lymphoid lineage and is up-regulated in response to inflammation
    • King, R.G., Herrin, B.R., Justement, L.B., Trem-like transcript 2 is expressed on cells of the myeloid/granuloid and B lymphoid lineage and is up-regulated in response to inflammation. J Immunol 176 (2006), 6012–6021.
    • (2006) J Immunol , vol.176 , pp. 6012-6021
    • King, R.G.1    Herrin, B.R.2    Justement, L.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.