Genetic analysis of TREM2 variants in Chinese Han patients with sporadic Parkinson's disease

Neuroscience Letters

Volumn 612, Issue , 2016, Pages 189-192

  Tan, Ting ^a   Song, Zhi ^a   Yuan, Lamei ^a   Xiong, Wei ^b   Deng, Xiong ^a   Ni, Bin ^c   Chen, Yong ^c   Deng, Hao ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b Central South University   (China)

^c Family Planning Institute of Hunan Province   (China)

Author keywords

Chinese Han; Genetic analysis; Rs2234253; Rs75932628; Sporadic Parkinson's disease; TREM2 gene

Indexed keywords

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

AGED; ARTICLE; CASE CONTROL STUDY; CHINA; CHINESE; CONTROLLED STUDY; ETHNICITY; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPORADIC PARKINSON DISEASE; ASIAN CONTINENTAL ANCESTRY GROUP; ETHNOLOGY; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED;

AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, IMMUNOLOGIC;

EID: 84951081714     PISSN: 03043940     EISSN: 18727972     Source Type: Journal    
DOI: 10.1016/j.neulet.2015.12.029     Document Type: Article

References (39)

1. de Lau L.M., Breteler M.M. Epidemiology of Parkinson's disease. Lancet Neurol. 2006, 5:525-535.
2. Gelb D.J., Oliver E., Gilman S. Diagnostic criteria for Parkinson disease. Arch. Neurol. 1999, 56:33-39.
3. Corti O., Lesage S., Brice A. What genetics tells us about the causes and mechanisms of Parkinson's disease. Physiol. Rev. 2011, 91:1161-1218.
4. Jankovic J. Parkinson's disease: clinical features and diagnosis. J. Neurol. Neurosurg. Psychiatry 2008, 79:368-376.
5. Lill C.M., Roehr J.T., McQueen M.B., Kavvoura F.K., Bagade S., Schjeide B.M., Schjeide L.M., Meissner E., Zauft U., Allen N.C., Liu T., Schilling M., Anderson K.J., Beecham G., Berg D., Biernacka J.M., Brice A., DeStefano A.L., Do C.B., Eriksson N., Factor S.A., Farrer M.J., Foroud T., Gasser T., Hamza T., Hardy J.A., Heutink P., Hill-Burns E.M., Klein C., Latourelle J.C., Maraganore D.M., Martin E.R., Martinez M., Myers R.H., Nalls M.A., Pankratz N., Payami H., Satake W., Scott W.K., Sharma M., Singleton A.B., Stefansson K., Toda T., Tung J.Y., Vance J., Wood N.W., Zabetian C.P., Young P., Tanzi R.E., Khoury M.J., Zipp F., Lehrach H., Ioannidis J.P., Bertram L. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: the PDGene database. PLoS Genet. 2012, 8:e1002548.
6. Deng H., Yuan L. Genetic variants and animal models in SNCA and Parkinson disease. Ageing Res. Rev. 2014, 15:161-176.
7. Benitez B.A., Cruchaga C. TREM2 and neurodegenerative disease. N. Engl. J. Med. 2013, 369:1567-1568.
8. 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.
9. Liu G., Liu Y., Jiang Q., Jiang Y., Feng R., Zhang L., Chen Z., Li K., Liu J. Convergent genetic and expression datasets highlight TREM2 in Parkinson's disease susceptibility. Mol. Neurobiol. 2015, 10.1007/s12035-015-9416-7.
10. Deng H., Xu X., Deng X., Song Z., Zheng W., Gao K., Fan X., Tang J. VPS35 mutation in Chinese Han patients with late-onset Parkinson's disease. Eur. J. Neurol. 2012, 19:e96-e97.
11. Yuan L., Song Z., Xu H., Gu S., Zhu A., Gong L., Zhao Y., Deng H. EIF4G1 Ala502Val and Arg1205His variants in Chinese patients with Parkinson disease. Neurosci. Lett. 2013, 543:69-71.
12. Guo Y., Yang H., Deng X., Song Z., Yang Z., Xiong W., Yuan L., Xu H., Deng S., Deng H. Genetic analysis of the S100B gene in Chinese patients with Parkinson disease. Neurosci. Lett. 2013, 555:134-136.
13. Xiu X., Song Z., Gao K., Deng X., Qi Y., Zhu A., Gong L., Deng H. Genetic analysis of the FBXO48 gene in Chinese Han patients with Parkinson disease. Neurosci. Lett. 2013, 541:224-226.
14. Yuan L., Deng X., Song Z., Yang Z., Ni B., Chen Y., Deng H. Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease. Neurobiol. Aging 2015, 36. 2907.e11-2907.e12.
15. Guo Y., Tan T., Deng X., Song Z., Yang Z., Yang Y., Deng H. TCEANC2 rs10788972 and rs12046178 variants in the PARK10 region in Chinese Han patients with sporadic Parkinson's disease. Neurobiol. Aging 2015, 36. 10.1016/j.neurobiolaging.2015.09.002.
16. He S., Tan T., Song Z., Yuan L., Deng X., Ni B., Chen Y., Deng H. Genetic analysis of MC1R variants in Chinese Han patients with sporadic Parkinson's disease. Neurosci. Lett. 2015, 10.1016/j.neulet.2015.11.034.
17. Hu J., Ng P.C. SIFT Indel: predictions for the functional effects of amino acid insertions/deletions in proteins. PLoS One 2013, 8:e77940.
18. Adzhubei I., Jordan D.M., Sunyaev S.R. Predicting functional effect of human missense mutations using PolyPhen-2. Curr. Protoc. Hum. Genet. 2013, 20. (Chapter 7: unit 7.20).
19. Buetow K.H., Edmonson M., MacDonald R., Clifford R., Yip P., Kelley J., Little D.P., Strausberg R., Koester H., Cantor C.R., Braun A. High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time- of-flight mass spectrometry. Proc. Natl. Acad. Sci. U. S. A. 2001, 98:581-584.
20. Powers K.M., Kay D.M., Factor S.A., Zabetian C.P., Higgins D.S., Samii A., Nutt J.G., Griffith A., Leis B., Roberts J.W., Martinez E.D., Montimurro J.S., Checkoway H., Payami H. Combined effects of smoking, coffee, and NSAIDs on Parkinson's disease risk. Mov. Disord. 2008, 23:88-95.
21. Chen H., Jacobs E., Schwarzschild M.A., McCullough M.L., Calle E.E., Thun M.J., Ascherio A. Nonsteroidal antiinflammatory drug use and the risk for Parkinson's disease. Ann. Neurol. 2005, 58:963-967.
22. Tansey M.G., Goldberg M.S. Neuroinflammation in Parkinson's disease: its role in neuronal death and implications for therapeutic intervention. Neurobiol. Dis. 2010, 37:510-518.
23. Colonna M. TREMs in the immune system and beyond. Nat. Rev. Immunol. 2003, 3:445-453.
24. Lee C.Y., Landreth G.E. The role of microglia in amyloid clearance from the AD brain. J. Neural. Transm. (Vienna) 2010, 117:949-960.
25. Piccio L., Buonsanti C., Mariani M., Cella M., Gilfillan S., Cross A.H., Colonna M., Panina-Bordignon P. Blockade of TREM-2 exacerbates experimental autoimmune encephalomyelitis. Eur. J. Immunol. 2007, 37:1290-1301.
26. Takahashi K., Prinz M., Stagi M., Chechneva O., Neumann H. TREM2-transduced myeloid precursors mediate nervous tissue debris clearance and facilitate recovery in an animal model of multiple sclerosis. PLoS Med. 2007, 4:e124.
27. Frank S., Burbach G.J., Bonin M., Walter M., Streit W., Bechmann I., Deller T. TREM2 is upregulated in amyloid plaque-associated microglia in aged APP23 transgenic mice. Glia 2008, 56:1438-1447.
28. 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.
29. 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., George-Hyslop P.St., Singleton A., Hardy J. TREM2 variants in Alzheimer's disease. N. Engl. J. Med. 2013, 368:117-127.
30. 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.
31. Borroni B., Ferrari F., Galimberti D., Nacmias B., Barone C., Bagnoli S., Fenoglio C., Piaceri I., Archetti S., Bonvicini C., Gennarelli M., Turla M., Scarpini E., Sorbi S., Padovani A. Heterozygous TREM2 mutations in frontotemporal dementia. Neurobiol. Aging 2014, 35. 934.e7-934.e10.
32. Giraldo M., Lopera F., Siniard A.L., Corneveaux J.J., Schrauwen I., Carvajal J., Munoz 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.
33. 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.
34. Feng S.J., Nie K., Gan R., Huang J., Zhang Y.W., Wang L.M., Zhao J.H., Tang H.M., Gao L., Zhu R.M., Duan Z.P., Zhang Y.H., Wang L.J. Triggering receptor expressed on myeloid cells 2 variants are rare in Parkinson's disease in a Han Chinese cohort. Neurobiol. Aging 2014, 35. 1780.e11-1780.e12.
35. Chen Y., Chen X., Guo X., Song W., Cao B., Wei Q., Ou R., Zhao B., Shang H.F. Assessment of TREM2 rs75932628 association with Parkinson's disease and multiple system atrophy in a Chinese population. Neurol. Sci. 2015, 36:1903-1906.
36. Jonsson T., Stefansson K. TREM2 and neurodegenerative disease. N. Engl. J. Med. 2013, 369:1568-1569.
37. Lill C.M., Rengmark A., Pihlstrom L., Fogh I., Shatunov A., Sleiman P.M., Wang L.S., Liu T., Lassen C.F., Meissner E., Alexopoulos P., Calvo A., Chio A., Dizdar N., Faltraco F., Forsgren L., Kirchheiner J., Kurz A., Larsen J.P., Liebsch M., Linder J., Morrison K.E., Nissbrandt H., Otto M., Pahnke J., Partch A., Restagno G., Rujescu D., Schnack C., Shaw C.E., Shaw P.J., Tumani H., Tysnes O.B., Valladares O., Silani V., van den Berg L.H., van Rheenen W., Veldink J.H., Lindenberger U., Steinhagen- Thiessen E., Teipel S., Perneczky R., Hakonarson H., Hampel H., von Arnim C.A., Olsen J.H., Van Deerlin V.M., Al-Chalabi A., Toft M., Ritz B., Bertram L. 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. 2015, 10.1016/j.jalz.2014.12.009.
38. 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.
39. 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.