More evidence for association of a rare TREM2 mutation (R47H) with Alzheimer's disease risk

Neurobiology of Aging

Volumn 36, Issue 8, 2015, Pages 2443.e21-2443.e26

  Rosenthal, Samantha L ^a   Bamne, Mikhil N ^a   Wang, Xingbin ^a   Berman, Sarah ^b   Snitz, Beth E ^b   Klunk, William E ^b   Sweet, Robert A ^b,c   Demirci, F Yesim ^a   Lopez, Oscar L ^b   Kamboh Ilyas, M ^a  

^a UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^c VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

LOAD; Rare variants; TREM2

Indexed keywords

AMYLOID PROTEIN; TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2; AMYLOID BETA PROTEIN; IMMUNOGLOBULIN RECEPTOR; MEMBRANE PROTEIN; TREM2 PROTEIN, HUMAN;

AGED; ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; DISEASE ACTIVITY; DISEASE ASSOCIATION; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN METABOLISM; PSYCHOSIS; RISK ASSESSMENT; RISK FACTOR; TREM2 GENE; BRAIN; CAUCASIAN; GENETIC ASSOCIATION STUDY; GENETICS; HETEROZYGOTE; METABOLISM; MISSENSE MUTATION; RISK;

AGE OF ONSET; AGED; ALZHEIMER DISEASE; AMYLOID BETA-PEPTIDES; BRAIN; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MUTATION, MISSENSE; PHENOTYPE; RECEPTORS, IMMUNOLOGIC; RISK;

EID: 84940655348     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2015.04.012     Document Type: Article

References (50)

1. Alzheimers Association. [Internet]. Chicago: c2015. [accessed 12 Jan 2015]. Alzheimer's Facts and Figures: Quick Facts. Available from:. http://www.alz.org/alzheimers_disease_facts_and_figures.asp#quickFacts.
2. Bamne M.N., Demirci F.Y., Berman S., Snitz B.E., Rosenthal S.L., Wang X., Lopez O.L., Kamboh M.I. Investigation of an amyloid precursor protein protective mutation (A673T) in a North American case-control sample of lateonset Alzheimer's disease. Neurobiol. Aging 2014, 35:1779.e15-1779.e16.
3. Benitez B.A., Cooper B., Pastor P., Jin S.C., Lorenzo E., Cervantes S., Cruchaga C. TREM2 is associated with the risk of Alzheimer's disease in Spanish population. Neurobiol. Aging 2013, 34:1711.e15-1711.e17.
4. Cady J., Koval E.D., Benitez B.A., Zaidman C., Jockel-Balsarotti J., Allred P., Baloh R.H., Ravits J., Simpson E., Appel S.H., Pestronk A., Goate A.M., Miller T.M., Cruchaga C., Harms M.B. TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis. JAMA Neurol. 2014, 71:449-453.
5. Cruchaga C., Karch C.M., Jin S.C., Benitez B.A., Cai Y., Guerreiro R., Harari O., Norton J., Budde J., Bertelsen S., Jeng A.T., Cooper B., Skorupa T., Carrell D., Levitch D., Hsu S., Choi J., Ryten M., Hardy J., Ryten M., Trabzuni D., Weale M.E., Ramasamy A., Smith C., Sassi C., Bras J., Gibbs J.R., Hernandez D.G., Lupton M.K., Powell J., Forabosco P., Ridge P.G., Corcoran C.D., Tschanz J.T., Norton M.C., Munger R.G., Schmutz C., Leary M., Demirci F.Y., Bamne M.N., Wang X., Lopez O.L., Ganguli M., Medway C., Turton J., Lord J., Braae A., Barber I., Brown K., Passmore P., Craig D., Johnston J., McGuinness B., Todd S., Heun R., Kölsch H., Kehoe P.G., Hooper N.M., Vardy E.R., Mann D.M., Pickering-Brown S., Brown K., Kalsheker N., Lowe J., Morgan K., David Smith A., Wilcock G., Warden D., Holmes C., Pastor P., Lorenzo-Betancor O., Brkanac Z., Scott E., Topol E., Morgan K., Rogaeva E., Singleton A.B., Hardy J., Kamboh M.I., St George-Hyslop P., Cairns N., Morris J.C., Kauwe J.S., Goate A.M. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature 2014, 505:550-554. U.K. Brain Expression Consortium, Alzheimer's Research U.K. ConsortiumAlzheimer's Research U.K. Consortium.
6. Cruchaga C., Kauwe J.S., Harari O., Jin S.C., Cai Y., Karch C.M., Benitez B.A., Jeng A.T., Skorupa T., Carrell D., Bertelsen S., Bailey M., McKean D., Shulman J.M., De Jager P.L., Chibnik L., Bennett D.A., Arnold S.E., Harold D., Sims R., Gerrish A., Williams J., Van Deerlin V.M., Lee V.M., Shaw L.M., Trojanowski J.Q., Haines J.L., Mayeux R., Pericak-Vance M.A., Farrer L.A., Schellenberg G.D., Peskind E.R., Galasko D., Fagan A.M., Holtzman D.M., Morris J.C., Goate A.M. GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron 2013, 78:256-268. GERAD Consortium, Alzheimer's Disease Neuroimaging Initiative (ADNI), Alzheimer Disease Genetic Consortium (ADGC).
7. Cuyvers E., Bettens K., Philtjens S., Van Langenhove T., Gijselinck I., van der Zee J., Engelborghs S., Vandenbulcke M., Van Dongen J., Geerts N., Maes G., Mattheijssens M., Peeters K., Cras P., Vandenberghe R., De Deyn P.P., Van Broeckhoven C., Cruts M., Sleegers K. Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia. Neurobiol. Aging 2014, 35:726.e11-726.e19. BELNEU consortium.
8. DeKosky S.T., Williamson J.D., Fitzpatrick A.L., Kronmal R.A., Ives D.G., Saxton J.A., Lopez O.L., Burke G., Carlson M.C., Fried L.P., Kuller L.H., Robbins J.A., Tracy R.P., Woolard N.F., Dunn L., Snitz B.E., Nahin R.L., Furberg C.D. Ginkgo biloba for prevention of dementia: a randomized controlled trial. JAMA 2008, 300:2253-2262. Ginkgo Evaluation of Memory (GEM) Study Investigators.
9. DeMichele-Sweet M.A., Klei L., Devlin B., Ferrell R.E., Weamer E.A., Emanuel J.E., Lopez O.L., Sweet R.A. No association of psychosis in Alzheimer disease with neurodegenerative pathway genes. Neurobiol. Aging 2011, 32:555.e9-555.e11.
10. Engelman C.D., Koscik R.L., Jonaitis E.M., Hermann B.P., La Rue A., Sager M.A. Investigation of triggering receptor expressed on myeloid cells 2 variant in the Wisconsin Registry for Alzheimer's Prevention. Neurobiol. Aging 2014, 35:1252-1254.
11. Finelli D., Rollinson S., Harris J., Jones M., Richardson A., Gerhard A., Snowden J., Mann D., Pickering-Brown S. TREM2 analysis and increased risk of Alzheimer's disease. Neurobiol. Aging 2015, 36:546.e9-546.e13.
12. Folstein M.F., Folstein S.E., McHugh P.R. "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J. Psychiatr. Res. 1975, 12:189-198.
13. Forabosco P., Ramasamy A., Trabzuni D., Walker R., Smith C., Bras J., Levine A.P., Hardy J., Pocock J.M., Guerreiro R., Weale M.E., Ryten M. Insights into TREM2 biology by network analysis of human brain gene expression data. Neurobiol. Aging 2013, 34:2699-2714.
14. Giraldo M., Lopera F., Siniard A.L., Corneveaux J.J., Schrauwen I., Carvajal J., Muñoz C., Ramirez-Restrepo M., Gaiteri C., Myers A.J., Caselli R.J., Kosik K.S., Reiman E.M., Huentelman M.J. Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease. Neurobiol. Aging 2013, 34:2077.e11-2077.e18.
15. Gonzalez Murcia J.D., Schmutz C., Munger C., Perkes A., Gustin A., Peterson M., Ebbert M.T., Norton M.C., Tschanz J.T., Munger R.G., Corcoran C.D., Kauwe J.S. Assessment of TREM2 rs75932628 association with Alzheimer's disease in a population-based sample: the Cache County Study. Neurobiol. Aging 2013, 34:2889.e11-2889.e13.
16. Guerreiro R., Wojtas A., Bras J., Carrasquillo M., Rogaeva E., Majounie E., Cruchaga C., Sassi C., Kauwe J.S., Younkin S., Hazrati L., Collinge J., Pocock J., Lashley T., Williams J., Lambert J.C., Amouyel P., Goate A., Rademakers R., Morgan K., Powell J., St George-Hyslop P., Singleton A., Hardy J. TREM2 variants in Alzheimer's disease. N. Engl. J. Med 2013, 368:117-127. Alzheimer Genetic Analysis Group.
17. Guerreiro R.J., Lohmann E., Brás J.M., Gibbs J.R., Rohrer J.D., Gurunlian N., Dursun B., Bilgic B., Hanagasi H., Gurvit H., Emre M., Singleton A., Hardy J. Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol. 2013, 70:78-84.
18. Guerreiro R., Bilgic B., Guven G., Brás J., Rohrer J., Lohmann E., Hanagasi H., Gurvit H., Emre M. Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family. Neurobiol. Aging 2013, 34:2890.e1-2890.e5.
19. Harold D., Abraham R., Hollingworth P., Sims R., Gerrish A., Hamshere M.L., Pahwa J.S., Moskvina V., Dowzell K., Williams A., Jones N., Thomas C., Stretton A., Morgan A.R., Lovestone S., Powell J., Proitsi P., Lupton M.K., Brayne C., Rubinsztein D.C., Gill M., Lawlor B., Lynch A., Morgan K., Brown K.S., Passmore P.A., Craig D., McGuinness B., Todd S., Holmes C., Mann D., Smith A.D., Love S., Kehoe P.G., Hardy J., Mead S., Fox N., Rossor M., Collinge J., Maier W., Jessen F., Schürmann B., Heun R., van den Bussche H., Heuser I., Kornhuber J., Wiltfang J., Dichgans M., Frölich L., Hampel H., Hüll M., Rujescu D., Goate A.M., Kauwe J.S., Cruchaga C., Nowotny P., Morris J.C., Mayo K., Sleegers K., Bettens K., Engelborghs S., De Deyn P.P., Van Broeckhoven C., Livingston G., Bass N.J., Gurling H., McQuillin A., Gwilliam R., Deloukas P., Al-Chalabi A., Shaw C.E., Tsolaki M., Singleton A.B., Guerreiro R., Mühleisen T.W., Nöthen M.M., Moebus S., Jöckel K.H., Klopp N., Wichmann H.E., Carrasquillo M.M., Pankratz V.S., Younkin S.G., Holmans P.A., O'Donovan M., Owen M.J., Williams J. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat. Genet. 2009, 41:1088-1093.
20. Hollingworth P., Harold D., Sims R., Gerrish A., Lambert J.C., Carrasquillo M.M., Abraham R., Hamshere M.L., Pahwa J.S., Moskvina V., Dowzell K., Jones N., Stretton A., Thomas C., Richards A., Ivanov D., Widdowson C., Chapman J., Lovestone S., Powell J., Proitsi P., Lupton M.K., Brayne C., Rubinsztein D.C., Gill M., Lawlor B., Lynch A., Brown K.S., Passmore P.A., Craig D., McGuinness B., Todd S., Holmes C., Mann D., Smith A.D., Beaumont H., Warden D., Wilcock G., Love S., Kehoe P.G., Hooper N.M., Vardy E.R., Hardy J., Mead S., Fox N.C., Rossor M., Collinge J., Maier W., Jessen F., Rüther E., Schürmann B., Heun R., Kölsch H., van den Bussche H., Heuser I., Kornhuber J., Wiltfang J., Dichgans M., Frölich L., Hampel H., Gallacher J., Hüll M., Rujescu D., Giegling I., Goate A.M., Kauwe J.S., Cruchaga C., Nowotny P., Morris J.C., Mayo K., Sleegers K., Bettens K., Engelborghs S., De Deyn P.P., Van Broeckhoven C., Livingston G., Bass N.J., Gurling H., McQuillin A., Gwilliam R., Deloukas P., Al-Chalabi A., Shaw C.E., Tsolaki M., Singleton A.B., Guerreiro R., Mühleisen T.W., Nöthen M.M., Moebus S., Jöckel K.H., Klopp N., Wichmann H.E., Pankratz V.S., Sando S.B., Aasly J.O., Barcikowska M., Wszolek Z.K., Dickson D.W., Graff-Radford N.R., Petersen R.C., van Duijn C.M., Breteler M.M., Ikram M.A., DeStefano A.L., Fitzpatrick A.L., Lopez O., Launer L.J., Seshadri S., Berr C., Campion D., Epelbaum J., Dartigues J.F., Tzourio C., Alpérovitch A., Lathrop M., Feulner T.M., Friedrich P., Riehle C., Krawczak M., Schreiber S., Mayhaus M., Nicolhaus S., Wagenpfeil S., Steinberg S., Stefansson H., Stefansson K., Snaedal J., Björnsson S., Jonsson P.V., Chouraki V., Genier-Boley B., Hiltunen M., Soininen H., Combarros O., Zelenika D., Delepine M., Bullido M.J., Pasquier F., Mateo I., Frank-Garcia A., Porcellini E., Hanon O., Coto E., Alvarez V., Bosco P., Siciliano G., Mancuso M., Panza F., Solfrizzi V., Nacmias B., Sorbi S., Bossù P., Piccardi P., Arosio B., Annoni G., Seripa D., Pilotto A., Scarpini E., Galimberti D., Brice A., Hannequin D., Licastro F., Jones L., Holmans P.A., Jonsson T., Riemenschneider M., Morgan K., Younkin S.G., Owen M.J., O'Donovan M., Amouyel P., Williams J. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat. Genet. 2011, 43:429-435. Alzheimer's Disease Neuroimaging Initiative, CHARGE consortiumCHARGE consortium, EADI1 consortiumEADI1 consortium.
21. Hollingworth P., Hamshere M.L., Moskvina V., Dowzell K., Moore P.J., Foy C., Archer N., Lynch A., Lovestone S., Brayne C., Rubinsztein D.C., Lawlor B., Gill M., Owen M.J., Williams J. Four components describe behavioral symptoms in 1,120 individuals with late-onset Alzheimer's disease. J. Am. Geriatr. Soc. 2006, 54:1348-1354.
22. Hooli B.V., Parrado A.R., Mullin K., Yip W.K., Liu T., Roehr J.T., Qiao D., Jessen F., Peters O., Becker T., Ramirez A., Lange C., Bertram L., Tanzi R.E. The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk. Neurology 2014, 83:1353-1358.
23. Hsieh C.L., Koike M., Spusta S.C., Niemi E.C., Yenari M., Nakamura M.C., Seaman W.E. A role for TREM2 ligands in the phagocytosis of apoptotic neuronal cells by microglia. J. Neurochem. 2009, 109:1144-1156.
24. Jiang T., Yu J.T., Zhu X.C., Tan M.S., Gu L.Z., Zhang Y.D., Tan L. Triggering receptor expressed on myeloid cells 2 knockdown exacerbates aging-related neuroinflammation and cognitive deficiency in senescence-accelerated mouse prone 8 mice. Neurobiol. Aging 2014, 35:1243-1251.
25. Jin S.C., Benitez B.A., Karch C.M., Cooper B., Skorupa T., Carrell D., Norton J.B., Hsu S., Harari O., Cai Y., Bertelsen S., Goate A.M., Cruchaga C. Coding variants in TREM2 increase risk for Alzheimer's disease. Hum. Mol. Genet. 2014, 23:5838-5846.
26. Jonsson T., Stefansson H., Steinberg S., Jonsdottir I., Jonsson P.V., Snaedal J., Bjornsson S., Huttenlocher J., Levey A.I., Lah J.J., Rujescu D., Hampel H., Giegling I., Andreassen O.A., Engedal K., Ulstein I., Djurovic S., Ibrahim-Verbaas C., Hofman A., Ikram M.A., van Duijn C.M., Thorsteinsdottir U., Kong A., Stefansson K. Variant of TREM2 associated with the risk of Alzheimer's disease. N. Engl. J. Med. 2013, 368:107-116.
27. Jonsson T., Atwal J.K., Steinberg S., Snaedal J., Jonsson P.V., Bjornsson S., Stefansson H., Sulem P., Gudbjartsson D., Maloney J., Hoyte K., Gustafson A., Liu Y., Lu Y., Bhangale T., Graham R.R., Huttenlocher J., Bjornsdottir G., Andreassen O.A., Jönsson E.G., Palotie A., Behrens T.W., Magnusson O.T., Kong A., Thorsteinsdottir U., Watts R.J., Stefansson K. A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. Nature 2012, 488:96-99.
28. Kamboh M.I., Demirci F.Y., Wang X., Minster R.L., Carrasquillo M.M., Pankratz V.S., Younkin S.G., Saykin A.J., Jun G., Baldwin C., Logue M.W., Buros J., Farrer L., Pericak-Vance M.A., Haines J.L., Sweet R.A., Ganguli M., Feingold E., Dekosky S.T., Lopez O.L., Barmada M.M. Genome-wide association study of Alzheimer's disease. Transl Psychiatry 2012, 2:e117. Alzheimer's Disease Neuroimaging Initiative.
29. Kero M., Paetau A., Polvikoski T., Tanskanen M., Sulkava R., Jansson L., Myllykangas L., Tienari P.J. Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population. Neurobiol. Aging 2013, 34:1518.e1-1518.e3.
30. Kleinberger G., Yamanishi Y., Suárez-Calvet M., Czirr E., Lohmann E., Cuyvers E., Struyfs H., Pettkus N., Wenninger-Weinzierl A., Mazaheri F., Tahirovic S., Lleó A., Alcolea D., Fortea J., Willem M., Lammich S., Molinuevo J.L., Sánchez-Valle R., Antonell A., Ramirez A., Heneka M.T., Sleegers K., van der Zee J., Martin J.J., Engelborghs S., Demirtas-Tatlidede A., Zetterberg H., Van Broeckhoven C., Gurvit H., Wyss-Coray T., Hardy J., Colonna M., Haass C. TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis. Sci. Transl Med. 2014, 6:243ra86.
31. Klunk W.E., Engler H., Nordberg A., Wang Y., Blomqvist G., Holt D.P., Bergström M., Savitcheva I., Huang G.F., Estrada S., Ausén B., Debnath M.L., Barletta J., Price J.C., Sandell J., Lopresti B.J., Wall A., Koivisto P., Antoni G., Mathis C.A., Långström B. Imaging brain amyloid in Alzheimer's disease with Pittsburgh Compound-B. Ann. Neurol. 2004, 55:306-319.
32. Lambert J.C., Ibrahim-Verbaas C.A., Harold D., Naj A.C., Sims R., Bellenguez C., DeStafano A.L., Bis J.C., Beecham G.W., Grenier-Boley B., Russo G., Thorton-Wells T.A., Jones N., Smith A.V., Chouraki V., Thomas C., Ikram M.A., Zelenika D., Vardarajan B.N., Kamatani Y., Lin C.F., Gerrish A., Schmidt H., Kunkle B., Dunstan M.L., Ruiz A., Bihoreau M.T., Choi S.H., Reitz C., Pasquier F., Cruchaga C., Craig D., Amin N., Berr C., Lopez O.L., De Jager P.L., Deramecourt V., Johnston J.A., Evans D., Lovestone S., Letenneur L., Morón F.J., Rubinsztein D.C., Eiriksdottir G., Sleegers K., Goate A.M., Fiévet N., Huentelman M.W., Gill M., Brown K., Kamboh M.I., Keller L., Barberger-Gateau P., McGuiness B., Larson E.B., Green R., Myers A.J., Dufouil C., Todd S., Wallon D., Love S., Rogaeva E., Gallacher J., St George-Hyslop P., Clarimon J., Lleo A., Bayer A., Tsuang D.W., Yu L., Tsolaki M., Bossù P., Spalletta G., Proitsi P., Collinge J., Sorbi S., Sanchez-Garcia F., Fox N.C., Hardy J., Deniz Naranjo M.C., Bosco P., Clarke R., Brayne C., Galimberti D., Mancuso M., Matthews F., Moebus S., Mecocci P., Del Zompo M., Maier W., Hampel H., Pilotto A., Bullido M., Panza F., Caffarra P., Nacmias B., Gilbert J.R., Mayhaus M., Lannefelt L., Hakonarson H., Pichler S., Carrasquillo M.M., Ingelsson M., Beekly D., Alvarez V., Zou F., Valladares O., Younkin S.G., Coto E., Hamilton-Nelson K.L., Gu W., Razquin C., Pastor P., Mateo I., Owen M.J., Faber K.M., Jonsson P.V., Combarros O., O'Donovan M.C., Cantwell L.B., Soininen H., Blacker D., Mead S., Mosley T.H., Bennett D.A., Harris T.B., Fratiglioni L., Holmes C., de Bruijn R.F., Passmore P., Montine T.J., Bettens K., Rotter J.I., Brice A., Morgan K., Foroud T.M., Kukull W.A., Hannequin D., Powell J.F., Nalls M.A., Ritchie K., Lunetta K.L., Kauwe J.S., Boerwinkle E., Riemenschneider M., Boada M., Hiltuenen M., Martin E.R., Schmidt R., Rujescu D., Wang L.S., Dartigues J.F., Mayeux R., Tzourio C., Hofman A., Nöthen M.M., Graff C., Psaty B.M., Jones L., Haines J.L., Holmans P.A., Lathrop M., Pericak-Vance M.A., Launer L.J., Farrer L.A., van Duijn C.M., Van Broeckhoven C., Moskvina V., Seshadri S., Williams J., Schellenberg G.D., Amouyel P. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat. Genet. 2013, 45:1452-1458. European Alzheimer's Disease Initiative (EADI); Genetic and Environmental Risk in Alzheimer's Disease; Alzheimer's Disease Genetic Consortium; Cohorts for Heart and Aging Research in Genomic Epidemiology.
33. Latta C.H., Brothers H.M., Wilcock D.M. Neuroinflammation in Alzheimer's disease; a source of heterogeneity and target for personalized therapy. Neuroscience 2014, pii: S0306-4522(14)00820-3. [Epub ahead of print]. ~Review.
34. Ma J., Jiang T., Tan L., Yu J.T. TYROBP in Alzheimer's disease. Mol. Neurobiol. 2015, 51, 820-826. ~Review.
35. Miyashita A., Wen Y., Kitamura N., Matsubara E., Kawarabayashi T., Shoji M., Tomita N., Furukawa K., Arai H., Asada T., Harigaya Y., Ikeda M., Amari M., Hanyu H., Higuchi S., Nishizawa M., Suga M., Kawase Y., Akatsu H., Imagawa M., Hamaguchi T., Yamada M., Morihara T., Takeda M., Takao T., Nakata K., Sasaki K., Watanabe K., Nakashima K., Urakami K., Ooya T., Takahashi M., Yuzuriha T., Serikawa K., Yoshimoto S., Nakagawa R., Saito Y., Hatsuta H., Murayama S., Kakita A., Takahashi H., Yamaguchi H., Akazawa K., Kanazawa I., Ihara Y., Ikeuchi T., Kuwano R. Lack of genetic association between TREM2 and late-onset Alzheimer's disease in a Japanese population. J. Alzheimers Dis. 2014, 41:1031-1038.
36. Murray P.S., Kumar S., Demichele-Sweet M.A., Sweet R.A. Psychosis in Alzheimer's disease. Biol. Psychiatry 2014, 75:542-552. ~Review.
37. Murray P.S., Kirkwood C.M., Gray M.C., Ikonomovic M.D., Paljug W.R., Abrahamson E.E., Henteleff R.A., Hamilton R.L., Kofler J.K., Klunk W.E., Lopez O.L., Penzes P., Sweet R.A. β-Amyloid 42/40 ratio and kalirin expression in Alzheimer disease with psychosis. Neurobiol. Aging 2012, 33:2807-2816.
38. Naj A.C., Jun G., Beecham G.W., Wang L.S., Vardarajan B.N., Buros J., Gallins P.J., Buxbaum J.D., Jarvik G.P., Crane P.K., Larson E.B., Bird T.D., Boeve B.F., Graff-Radford N.R., De Jager P.L., Evans D., Schneider J.A., Carrasquillo M.M., Ertekin-Taner N., Younkin S.G., Cruchaga C., Kauwe J.S., Nowotny P., Kramer P., Hardy J., Huentelman M.J., Myers A.J., Barmada M.M., Demirci F.Y., Baldwin C.T., Green R.C., Rogaeva E., St George-Hyslop P., Arnold S.E., Barber R., Beach T., Bigio E.H., Bowen J.D., Boxer A., Burke J.R., Cairns N.J., Carlson C.S., Carney R.M., Carroll S.L., Chui H.C., Clark D.G., Corneveaux J., Cotman C.W., Cummings J.L., DeCarli C., DeKosky S.T., Diaz-Arrastia R., Dick M., Dickson D.W., Ellis W.G., Faber K.M., Fallon K.B., Farlow M.R., Ferris S., Frosch M.P., Galasko D.R., Ganguli M., Gearing M., Geschwind D.H., Ghetti B., Gilbert J.R., Gilman S., Giordani B., Glass J.D., Growdon J.H., Hamilton R.L., Harrell L.E., Head E., Honig L.S., Hulette C.M., Hyman B.T., Jicha G.A., Jin L.W., Johnson N., Karlawish J., Karydas A., Kaye J.A., Kim R., Koo E.H., Kowall N.W., Lah J.J., Levey A.I., Lieberman A.P., Lopez O.L., Mack W.J., Marson D.C., Martiniuk F., Mash D.C., Masliah E., McCormick W.C., McCurry S.M., McDavid A.N., McKee A.C., Mesulam M., Miller B.L., Miller C.A., Miller J.W., Parisi J.E., Perl D.P., Peskind E., Petersen R.C., Poon W.W., Quinn J.F., Rajbhandary R.A., Raskind M., Reisberg B., Ringman J.M., Roberson E.D., Rosenberg R.N., Sano M., Schneider L.S., Seeley W., Shelanski M.L., Slifer M.A., Smith C.D., Sonnen J.A., Spina S., Stern R.A., Tanzi R.E., Trojanowski J.Q., Troncoso J.C., Van Deerlin V.M., Vinters H.V., Vonsattel J.P., Weintraub S., Welsh-Bohmer K.A., Williamson J., Woltjer R.L., Cantwell L.B., Dombroski B.A., Beekly D., Lunetta K.L., Martin E.R., Kamboh M.I., Saykin A.J., Reiman E.M., Bennett D.A., Morris J.C., Montine T.J., Goate A.M., Blacker D., Tsuang D.W., Hakonarson H., Kukull W.A., Foroud T.M., Haines J.L., Mayeux R., Pericak-Vance M.A., Farrer L.A., Schellenberg G.D. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat. Genet. 2011, 43:436-441.
39. Paloneva J., Manninen T., Christman G., Hovanes K., Mandelin J., Adolfsson R., Bianchin M., Bird T., Miranda R., Salmaggi A., Tranebjaerg L., Konttinen Y., Peltonen L. Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. Am. J. Hum. Genet. 2002, 71:656-662.
40. Pottier C., Wallon D., Rousseau S., Rovelet-Lecrux A., Richard A.C., Rollin-Sillaire A., Frebourg T., Campion D., Hannequin D. TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease. J. Alzheimers Dis. 2013, 35:45-49.
41. Rayaprolu S., Mullen B., Baker M., Lynch T., Finger E., Seeley W.W., Hatanpaa K.J., Lomen-Hoerth C., Kertesz A., Bigio E.H., Lippa C., Josephs K.A., Knopman D.S., White C.L., Caselli R., Mackenzie I.R., Miller B.L., Boczarska-Jedynak M., Opala G., Krygowska-Wajs A., Barcikowska M., Younkin S.G., Petersen R.C., Ertekin-Taner N., Uitti R.J., Meschia J.F., Boylan K.B., Boeve B.F., Graff-Radford N.R., Wszolek Z.K., Dickson D.W., Rademakers R., Ross O.A. TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease. Mol. Neurodegener 2013, 8:19.
42. Roussos P., Katsel P., Fam P., Tan W., Purohit D.P., Haroutunian V. The triggering receptor expressed on myeloid cells 2 (TREM2) is associated with enhanced inflammation, neuropathological lesions and increased risk for Alzheimer's dementia. Alzheimers Dement. 2014, pii: S1552-5260(14) 02868-4.
43. Schmid C.D., Sautkulis L.N., Danielson P.E., Cooper J., Hasel K.W., Hilbush B.S., Sutcliffe J.G., Carson M.J. Heterogeneous expression of the triggering receptor expressed on myeloid cells-2 on adult murine microglia. J. Neurochem. 2002, 83:1309-1320.
44. Seshadri S., Fitzpatrick A.L., Ikram M.A., DeStefano A.L., Gudnason V., Boada M., Bis J.C., Smith A.V., Carassquillo M.M., Lambert J.C., Harold D., Schrijvers E.M., Ramirez-Lorca R., Debette S., Longstreth W.T., Janssens A.C., Pankratz V.S., Dartigues J.F., Hollingworth P., Aspelund T., Hernandez I., Beiser A., Kuller L.H., Koudstaal P.J., Dickson D.W., Tzourio C., Abraham R., Antunez C., Du Y., Rotter J.I., Aulchenko Y.S., Harris T.B., Petersen R.C., Berr C., Owen M.J., Lopez-Arrieta J., Varadarajan B.N., Becker J.T., Rivadeneira F., Nalls M.A., Graff-Radford N.R., Campion D., Auerbach S., Rice K., Hofman A., Jonsson P.V., Schmidt H., Lathrop M., Mosley T.H., Au R., Psaty B.M., Uitterlinden A.G., Farrer L.A., Lumley T., Ruiz A., Williams J., Amouyel P., Younkin S.G., Wolf P.A., Launer L.J., Lopez O.L., van Duijn C.M., Breteler M.M. Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA 2010, 303:1832-1840. CHARGE Consortium, GERAD1 Consortium, EADI1 Consortium.
45. Soragna D., Papi L., Ratti M.T., Sestini R., Tupler R., Montalbetti L. An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene. J. Neurol. Neurosurg. Psychiatry 2003, 74:825-826. ~Erratum.
46. Slattery C.F., Beck J.A., Harper L., Adamson G., Abdi Z., Uphill J., Campbell T., Druyeh R., Mahoney C.J., Rohrer J.D., Kenny J., Lowe J., Leung K.K., Barnes J., Clegg S.L., Blair M., Nicholas J.M., Guerreiro R.J., Rowe J.B., Ponto C., Zerr I., Kretzschmar H., Gambetti P., Crutch S.J., Warren J.D., Rossor M.N., Fox N.C., Collinge J., Schott J.M., Mead S. R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia. Alzheimers Dement 2014, 10:602-608.
47. Sweet R.A., Bennett D.A., Graff-Radford N.R., Mayeux R. Assessment and familial aggregation of psychosis in Alzheimer's disease from the National Institute on Aging Late Onset Alzheimer's Disease Family Study. Brain 2010, 133:1155-1162. National Institute on Aging Late-Onset Alzheimer's Disease Family Study Group.
48. Tariot P.N., Mack J.L., Patterson M.B., Edland S.D., Weiner M.F., Fillenbaum G., Blazina L., Teri L., Rubin E., Mortimer J.A., Stern Y. The behavior rating scale for dementia of the Consortium to Establish a Registry for Alzheimer's Disease. Am. J. Psychiatry 1995, 152:1349-1357. the Behavioral Pathology Committee of the Consortium to Establish a Registry for Alzheimerapos;s Disease.
49. Wilkosz P.A., Kodavali C., Weamer E.A., Miyahara S., Lopez O.L., Nimgaonkar V.L., DeKosky S.T., Sweet R.A. Prediction of psychosis onset in Alzheimer disease: the role of depression symptom severity and the HTR2A T102C polymorphism. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007, 144B:1054-1062.
50. Yu J.T., Jiang T., Wang Y.L., Wang H.F., Zhang W., Hu N., Tan L., Sun L., Tan M.S., Zhu X.C., Tan L. Triggering receptor expressed on myeloid cells 2 variant is rare in late-onset Alzheimer's disease in Han Chinese individuals. Neurobiol. Aging 2014, 35:937.e1-937.e3.