A rare coding variant in TREM2 increases risk for Alzheimer's disease in Han Chinese

Neurobiology of Aging

Volumn 42, Issue , 2016, Pages 217.e1-217.e3

  Jiang, Teng ^a,b   Tan, Lan ^c,d   Chen, Qi ^c   Tan, Meng Shan ^d   Zhou, Jun Shan ^a   Zhu, Xi Chen ^c   Lu, Huan ^c   Wang, Hui Fu ^c   Zhang, Ying Dong ^a   Yu, Jin Tai ^b  

^a NANJING MEDICAL UNIVERSITY   (China)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c NANJING MEDICAL UNIVERSITY   (China)

^d QINGDAO UNIVERSITY   (China)

Author keywords

Alzheimer's disease; Han Chinese; Rare coding variants; TREM2

Indexed keywords

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

ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; EXON; GENE FREQUENCY; GENETIC RISK; GENETIC SUSCEPTIBILITY; HAN CHINESE; HETEROZYGOSITY; HIGH THROUGHPUT SEQUENCING; HUMAN; MAJOR CLINICAL STUDY; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TREM2 GENE; ASIAN CONTINENTAL ANCESTRY GROUP; COHORT ANALYSIS; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; RISK;

ALZHEIMER DISEASE; ASIAN CONTINENTAL ANCESTRY GROUP; COHORT STUDIES; EXONS; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; MEMBRANE GLYCOPROTEINS; RECEPTORS, IMMUNOLOGIC; RISK;

EID: 84962631371     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2016.02.023     Document Type: Article

References (15)

1. Atagi Y., Liu C.C., Painter M.M., Chen X.F., Verbeeck C., Zheng H., Li X., Rademakers R., Kang S.S., Xu H., Younkin S., Das P., Fryer J.D., Bu G. Apolipoprotein E is a ligand for triggering receptor expressed on myeloid cells 2 (TREM2). J. Biol. Chem. 2015, 290:26043-26050.
2. 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.
3. 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.
4. Jay T.R., Miller C.M., Cheng P.J., Graham L.C., Bemiller S., Broihier M.L., Xu G., Margevicius D., Karlo J.C., Sousa G.L., Cotleur A.C., Butovsky O., Bekris L., Staugaitis S.M., Leverenz J.B., Pimplikar S.W., Landreth G.E., Howell G.R., Ransohoff R.M., Lamb B.T. TREM2 deficiency eliminates TREM2+ inflammatory macrophages and ameliorates pathology in Alzheimer's disease mouse models. J. Exp. Med. 2015, 212:287-295.
5. Jiang T., Tan L., Zhu X.C., Zhang Q.Q., Cao L., Tan M.S., Gu L.Z., Wang H.F., Ding Z.Z., Zhang Y.D., Yu J.T. Upregulation of TREM2 ameliorates neuropathology and rescues spatial cognitive impairment in a transgenic mouse model of Alzheimer's disease. Neuropsychopharmacology 2014, 39:2949-2962.
6. Jiang T., Yu J.T., Zhu X.C., Tan L. TREM2 in Alzheimer's disease. Mol. Neurobiol. 2013, 48:180-185.
7. 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.
8. 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.
9. Kawabori M., Kacimi R., Kauppinen T., Calosing C., Kim J.Y., Hsieh C.L., Nakamura M.C., Yenari M.A. Triggering receptor expressed on myeloid cells 2 (TREM2) deficiency attenuates phagocytic activities of microglia and exacerbates ischemic damage in experimental stroke. J. Neurosci. 2015, 35:3384-3396.
10. Kleinberger G., Yamanishi Y., Suarez-Calvet M., Czirr E., Lohmann E., Cuyvers E., Struyfs H., Pettkus N., Wenninger-Weinzierl A., Mazaheri F., Tahirovic S., Lleo A., Alcolea D., Fortea J., Willem M., Lammich S., Molinuevo J.L., Sanchez-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.
11. Piccio L., Buonsanti C., Cella M., Tassi I., Schmidt R.E., Fenoglio C., Rinker J., Naismith R.T., Panina-Bordignon P., Passini N., Galimberti D., Scarpini E., Colonna M., Cross A.H. Identification of soluble TREM-2 in the cerebrospinal fluid and its association with multiple sclerosis and CNS inflammation. Brain 2008, 131(Pt 11):3081-3091.
12. Piccio L., Deming Y., Del-Aguila J.L., Ghezzi L., Holtzman D.M., Fagan A.M., Fenoglio C., Galimberti D., Borroni B., Cruchaga C. Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status. Acta Neuropathol 2016, 10.1007/s00401-016-1533-5.
13. Poliani P.L., Wang Y., Fontana E., Robinette M.L., Yamanishi Y., Gilfillan S., Colonna M. TREM2 sustains microglial expansion during aging and response to demyelination. J. Clin. Invest. 2015, 125:2161-2170.
14. Wang Y., Cella M., Mallinson K., Ulrich J.D., Young K.L., Robinette M.L., Gilfillan S., Krishnan G.M., Sudhakar S., Zinselmeyer B.H., Holtzman D.M., Cirrito J.R., Colonna M. TREM2 lipid sensing sustains the microglial response in an Alzheimer's disease model. Cell 2015, 160:1061-1071.
15. 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. 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.