Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

TitleRare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Publication TypeJournal Article
Year of Publication2017
AuthorsSims, R, van der Lee, SJ, Naj, AC, Bellenguez, C, Badarinarayan, N, Jakobsdottir, J, Kunkle, BW, Boland, A, Raybould, R, Bis, JC, Martin, ER, Grenier-Boley, B, Heilmann-Heimbach, S, Chouraki, V, Kuzma, AB, Sleegers, K, Vronskaya, M, Ruiz, A, Graham, RR, Olaso, R, Hoffmann, P, Grove, ML, Vardarajan, BN, Hiltunen, M, Nöthen, MM, White, CC, Hamilton-Nelson, KL, Epelbaum, J, Maier, W, Choi, S-H, Beecham, GW, Dulary, C, Herms, S, Smith, AV, Funk, CC, Derbois, C, Forstner, AJ, Ahmad, S, Li, H, Bacq, D, Harold, D, Satizabal, CL, Valladares, O, Squassina, A, Thomas, R, Brody, JA, Qu, L, Sánchez-Juan, P, Morgan, T, Wolters, FJ, Zhao, Y, Garcia, FSanchez, Denning, N, Fornage, M, Malamon, J, Naranjo, MCandida De, Majounie, E, Mosley, TH, Dombroski, B, Wallon, D, Lupton, MK, Dupuis, J, Whitehead, P, Fratiglioni, L, Medway, C, Jian, X, Mukherjee, S, Keller, L, Brown, K, Lin, H, Cantwell, LB, Panza, F, McGuinness, B, Moreno-Grau, S, Burgess, JD, Solfrizzi, V, Proitsi, P, Adams, HH, Allen, M, Seripa, D, Pastor, P, L Cupples, A, Price, ND, Hannequin, D, Frank-García, A, Levy, D, Chakrabarty, P, Caffarra, P, Giegling, I, Beiser, AS, Giedraitis, V, Hampel, H, Garcia, ME, Wang, X, Lannfelt, L, Mecocci, P, Eiriksdottir, G, Crane, PK, Pasquier, F, Boccardi, V, Henández, I, Barber, RC, Scherer, M, Tarraga, L, Adams, PM, Leber, M, Chen, Y, Albert, MS, Riedel-Heller, S, Emilsson, V, Beekly, D, Braae, A, Schmidt, R, Blacker, D, Masullo, C, Schmidt, H, Doody, RS, Spalletta, G, Jr, WTLongstre, Fairchild, TJ, Bossù, P, Lopez, OL, Frosch, MP, Sacchinelli, E, Ghetti, B, Yang, Q, Huebinger, RM, Jessen, F, Li, S, M Kamboh, I, Morris, J, Sotolongo-Grau, O, Katz, MJ, Corcoran, C, Dunstan, M, Braddel, A, Thomas, C, Meggy, A, Marshall, R, Gerrish, A, Chapman, J, Aguilar, M, Taylor, S, Hill, M, Fairén, MDíez, Hodges, A, Vellas, B, Soininen, H, Kloszewska, I, Daniilidou, M, Uphill, J, Patel, Y, Hughes, JT, Lord, J, Turton, J, Hartmann, AM, Cecchetti, R, Fenoglio, C, Serpente, M, Arcaro, M, Caltagirone, C, Orfei, MDonata, Ciaramella, A, Pichler, S, Mayhaus, M, Gu, W, Lleo, A, Fortea, J, Blesa, R, Barber, IS, Brookes, K, Cupidi, C, Maletta, RGiovanni, Carrell, D, Sorbi, S, Moebus, S, Urbano, M, Pilotto, A, Kornhuber, J, Bosco, P, Todd, S, Craig, D, Johnston, J, Gill, M, Lawlor, B, Lynch, A, Fox, NC, Hardy, J, Albin, RL, Apostolova, LG, Arnold, SE, Asthana, S, Atwood, CS, Baldwin, CT, Barnes, LL, Barral, S, Beach, TG, Becker, JT, Bigio, EH, Bird, TD, Boeve, BF, Bowen, JD, Boxer, A, Burke, JR, Burns, JM, Buxbaum, JD, Cairns, NJ, Cao, C, Carlson, CS, Carlsson, CM, Carney, RM, Carrasquillo, MM, Carroll, SL, Diaz, CCeballos, Chui, HC, Clark, DG, Cribbs, DH, Crocco, EA, DeCarli, C, Dick, M, Duara, R, Evans, DA, Faber, KM, Fallon, KB, Fardo, DW, Farlow, MR, Ferris, S, Foroud, TM, Galasko, DR, Gearing, M, Geschwind, DH, Gilbert, JR, Graff-Radford, NR, Green, RC, Growdon, JH, Hamilton, RL, Harrell, LE, Honig, LS, Huentelman, MJ, Hulette, CM, Hyman, BT, Jarvik, GP, Abner, E, Jin, L-W, Jun, G, Karydas, A, Kaye, JA, Kim, R, Kowall, NW, Kramer, JH, LaFerla, FM, Lah, JJ, Leverenz, JB, Levey, AI, Li, G, Lieberman, AP, Lunetta, KL, Lyketsos, CG, Marson, DC, Martiniuk, F, Mash, DC, Masliah, E, McCormick, WC, McCurry, SM, McDavid, AN, McKee, AC, Mesulam, M, Miller, BL, Miller, CA, Miller, JW, Morris, JC, Murrell, JR, Myers, AJ, O'Bryant, S, Olichney, JM, Pankratz, VS, Parisi, JE, Paulson, HL, Perry, W, Peskind, E, Pierce, A, Poon, WW, Potter, H, Quinn, JF, Raj, A, Raskind, M, Reisberg, B, Reitz, C, Ringman, JM, Roberson, ED, Rogaeva, E, Rosen, HJ, Rosenberg, RN, Sager, MA, Saykin, AJ, Schneider, JA, Schneider, LS, Seeley, WW, Smith, AG, Sonnen, JA, Spina, S, Stern, RA, Swerdlow, RH, Tanzi, RE, Thornton-Wells, TA, Trojanowski, JQ, Troncoso, JC, Van Deerlin, VM, Van Eldik, LJ, Vinters, HV, Vonsattel, JPaul, Weintraub, S, Welsh-Bohmer, KA, Wilhelmsen, KC, Williamson, J, Wingo, TS, Woltjer, RL, Wright, CB, Yu, C-E, Yu, L, Garzia, F, Golamaully, F, Septier, G, Engelborghs, S, Vandenberghe, R, De Deyn, PP, Fernadez, CMuñoz, Benito, YAladro, Thonberg, H, Forsell, C, Lilius, L, Kinhult-Stählbom, A, Kilander, L, Brundin, RM, Concari, L, Helisalmi, S, Koivisto, AMaria, Haapasalo, A, Dermecourt, V, Fiévet, N, Hanon, O, Dufouil, C, Brice, A, Ritchie, K, Dubois, B, Himali, JJ, C Keene, D, Tschanz, JA, Fitzpatrick, AL, Kukull, WA, Norton, M, Aspelund, T, Larson, EB, Munger, R, Rotter, JI, Lipton, RB, Bullido, MJ, Hofman, A, Montine, TJ, Coto, E, Boerwinkle, E, Petersen, RC, Alvarez, V, Rivadeneira, F, Reiman, EM, Gallo, M, O'Donnell, CJ, Reisch, JS, Bruni, ACecilia, Royall, DR, Dichgans, M, Sano, M, Galimberti, D, St George-Hyslop, P, Scarpini, E, Tsuang, DW, Mancuso, M, Bonuccelli, U, Winslow, AR, Daniele, A, Wu, C-K, Peters, O, Nacmias, B, Riemenschneider, M, Heun, R, Brayne, C, Rubinsztein, DC, Bras, J, Guerreiro, R, Al-Chalabi, A, Shaw, CE, Collinge, J, Mann, D, Tsolaki, M, Clarimon, J, Sussams, R, Lovestone, S, O'Donovan, MC, Owen, MJ, Behrens, TW, Mead, S, Goate, AM, Uitterlinden, AG, Holmes, C, Cruchaga, C, Ingelsson, M, Bennett, DA, Powell, J, Golde, TE, Graff, C, De Jager, PL, Morgan, K, Ertekin-Taner, N, Combarros, O, Psaty, BM, Passmore, P, Younkin, SG, Berr, C, Gudnason, V, Rujescu, D, Dickson, DW, Dartigues, J-F, DeStefano, AL, Ortega-Cubero, S, Hakonarson, H, Campion, D, Boada, M, Kauwe, JKeoni, Farrer, LA, Van Broeckhoven, C, M Ikram, A, Jones, L, Haines, JL, Tzourio, C, Launer, LJ, Escott-Price, V, Mayeux, R, Deleuze, J-F, Amin, N, Holmans, PA, Pericak-Vance, MA, Amouyel, P, van Duijn, CM, Ramirez, A, San Wang, L-, Lambert, J-C, Seshadri, S, Williams, J, Schellenberg, GD
Corporate AuthorsARUK Consortium, GERAD/PERADES, CHARGE, ADGC, EADI
JournalNat Genet
Date Published2017 Jul 17
ISSN1546-1718
Abstract

We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P

DOI10.1038/ng.3916
Alternate JournalNat. Genet.
PubMed ID28714976