A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

by Lee, S.J. van der, Conway, O.J., Jansen, I., Carrasquillo, M.M., Kleineidam, L., Akker, E. van den, Hernandez, I., Eijk, K.R. van, Stringa, N., Chen, J.A., Zettergren, A., Andlauer, T.F.M., Diez-Fairen, M., Simon-Sanchez, J., Lleo, A., Zetterberg, H., Nygaard, M., Blauwendraat, C., Savage, J.E., Mengel-From, J., Moreno-Grau, S., Wagner, M., Fortea, J., Keogh, M.J., Blennow, K., Skoog, I., Friese, M.A., Pletnikova, O., Zulaica, M., Lage, C., Rojas, I. de, Riedel-Heller, S., Illan-Gala, I., Wei, W., Jeune, B., Orellana, A., Bergh, F.T., Wang, X., Hulsman, M., Beker, N., Tesi, N., Morris, C.M., Indakoetxea, B., Collij, L.E., Scherer, M., Morenas-Rodriguez, E., Ironside, J.W., Berckel, B.N.M. van, Alcolea, D., Wiendl, H., Strickland, S.L., Pastor, P., Rodriguez Rodriguez, E., Boeve, B.F., Petersen, R.C., Ferman, T.J., Gerpen, J.A. van, Reinders, M.J.T., Uitti, R.J., Tarraga, L., Maier, W., Dols-Icardo, O., Kawalia, A., Dalmasso, M.C., Boada, M., Zettl, U.K., Schoor, N.M. van, Beekman, M., Allen, M., Masliah, E., Munain, A.L. de, Pantelyat, A., Wszolek, Z.K., Ross, O.A., Dickson, D.W., Graff-Radford, N.R., Knopman, D., Rademakers, R., Lemstra, A.W., Pijnenburg, Y.A.L., Scheltens, P., Gasser, T., Chinnery, P.F., Hemmer, B., Huisman, M.A., Troncoso, J., Moreno, F., Nohr, E.A., Sorensen, T.I.A., Heutink, P., Sanchez-Juan, P., Posthuma, D., Clarimon, J., Christensen, K., Ertekin-Taner, N., Scholz, S.W., Ramirez, A., Ruiz, A., Slagboom, E., Flier, W.M. van der, Holstege, H., DESGESCO Dementia Genetics, EADB Alzheimer Dis European, IFGC Int FTD-Genomics, IPDGC Int Parkinson Dis Genomics, RiMod-FTD Risk Modifying, Netherlands Brain Bank NBB, GIFT Genetic Invest
Published 2019

Alzheimer's disease risk polymorphisms regulate gene expression in the ZCWPW1 and the CELF1 loci

by Karch C.M., Ezerskiy L.A., Bertelsen S., Goate A.M., Albert M.S., Albin R.L., Apostolova L.G., Arnold S.E., Baldwin C.T., Barber R., Barmada M.M., Barnes L.L., Beach T.G., Beecham G.W., Beekly D., Bennett D.A., Bigio E.H., Bird T.D., Blacker D., Boeve B.F., Bowen J.D., Boxer A., Burke J.R., Buxbaum J.D., Cairns N.J., Cantwell L.B., Cao C., Carlson C.S., Carney R.M., Carrasquillo M.M., Carroll S.L., Chui H.C., Clark D.G., Corneveaux J., Crane P.K., Cribbs D.H., Crocco E.A., Cruchaga C., De Jager P.L., DeCarli C., DeKosky S.T., Demirci F.Y., Dick M., Dickson D.W., Duara R., Ertekin-Taner N., Evans D., Faber K.M., Fallon K.B., Farlow M.R., Ferris S., Foroud T.M., Frosch M.P., Galasko D.R., Ganguli M., Gearing M., Geschwind D.H., Ghetti B., Gilbert J.R., Gilman S., Glass J.D., Graff-Radford N.R., Green R.C., Growdon J.H., Hakonarson H., Hamilton-Nelson K.L., Hamilton R.L., Hardy J., Harrell L.E., Head E., Honig L.S., Huentelman M.J., Hulette C.M., Hyman B.T., Jarvik G.P., Jicha G.A., Jin L.-W., Kamboh M.I., Karydas A., Kauwe J.S.K., Kaye J.A., Kim R., Koo E.H., Kowall N.W., Kramer J.H., Kramer P., Kukull W.A., LaFerla F.M., Lah J.J., Larson E.B., Leverenz J.B., Levey A.I., Li G., Lin C.-F., Lieberman A.P., Lopez O.L., Lunetta K.L., Lyketsos C.G., Mack W.J., Marson D.C., Martin E.R., 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., Montine T.J., Morris J.C., Murrell J.R., Myers A.J., Naj A.C., Olichney J.M., Pankratz V.S., Parisi J.E., Peskind E., Petersen R.C., Pierce A., Poon W.W., Potter H., Quinn J.F., Raj A., Rajbhandary R.A., Raskind M., Reiman E.M., Reisberg B., Reitz C., Ringman J.M., Roberson E.D., Rogaeva E., Rosen H.J., Rosenberg R.N., Sano M., Saykin A.J., Schneider J.A., Schneider L.S., Seeley W.W., Smith A.G., Sonnen J.A., Spina S., Stern R.A., Tanzi R.E., Trojanowski J.Q., Troncoso J.C., Tsuang D.W., Valladares O., Van Deerlin V.M., Van Eldik L.J., Vardarajan B.N., Vinters H.V., Vonsattel J.P., Weintraub S., Welsh-Bohmer K.A., Williamson J., Woltjer R.L., Wright C.B., Younkin S.G., Yu C.-E., Yu L.
Published 2018

Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

by Kunkle, BW, Grenier-Boley, B, Sims, R, Bis, JC, Naj, AC, Boland, A, Vronskaya, M, van der Lee, SJ, Amlie-Wolf, A, Bellenguez, C, Frizatti, A, Chouraki, V, Martin, ER, Sleegers, K, Badarinarayan, N, Jakobsdottir, J, Hamilton-Nelson, KL, Aloso, R, Raybould, R, Chen, Y, Kuzma, AB, Hiltunen, M, Morgan, T, Ahmad, S, Vardarajan, BN, Epelbaum, J, Hoffmann, P, Boada, M, Beecham, GW, Garnier, JG, Harold, D, Fitzpatrick, AL, Valladares, O, Moutet, ML, Gerrish, A, Smith, AV, Qu, L, Bacq, D, Denning, N, Jian, X, Zhao, Y, Zompo, MD, Fox, NC, Grove, ML, Choi, SH, Mateo, I, Hughes, JT, Adams, HH, Malamon, J, Garcia, FS, Patel, Y, Brody, JA, Dombroski, B, Naranjo, MCD, Daniilidou, M, Eiriksdottir, G, Mukherjee, S, Wallon, D, Uphill, J, Aspelund, T, Cantwell, LB, Garzia, F, Galimberti, D, Hofer, E, Butkiewics, M, Fin, B, Scarpini, E, Sarnowski, C, Bush, W, Meslage, S, Kornhuber, J, White, CC, Song, Y, Barber, RC, Engelborghs, S, Pichler, S, Voijnovic, D, Adams, PM, Vandenberghe, R, Mayhaus, M, Cupples, LA, Albert, MS, De Deyn, PP, Gu, W, Himali, JJ, Beekly, D, Squassina, A, Hartmann, AM, Orellana, A, Blacker, D, Rodriguez-Rodriguez, E, Lovestone, S, Garcia, ME, Doody, RS, Fernadez, CM, Sussams, R, Lin, H, Fairchild, TJ, Benito, YA, Holmes, C, Comic, H, Frosch, MP, Thonberg, H, Maier, W, Roschupkin, G, Ghetti, B, Giedraitis, V, Kawalia, A, Li, S, Huebinger, RM, Kilander, L, Moebus, S, Hernández, I, Kamboh, MI, Brundin, R, Turton, J, Yang, Q, Katz, MJ, Concari, L, Lord, J, Beiser, AS, Keene, CD, Helisalmi, S, Kloszewska, I, Kukull, WA, Koivisto, AM, Lynch, A, Tarraga, L, Larson, EB, Haapasalo, A, Lawlor, B, Mosley, TH, Lipton, RB, Solfrizzi, V, Gill, M, Longstreth, WT, Montine, TJ, Frisardi, V, Ortega-Cubero, S, Rivadeneira, F, Petersen, RC, Deramecourt, V, Ciaramella, A, Boerwinkle, E, Reiman, EM, Fievet, N, Caltagirone, C, Rotter, JI, Reisch, JS, Hanon, O, Cupidi, C, Uitterlinden, AG, Royall, DR, Dufouil, C, Maletta, RG, Moreno-Grau, S, Sano, M, Brice, A, Cecchetti, R, St George-Hyslop, P, Ritchie, K, Tsolaki, M, Tsuang, DW, Dubois, B, Craig, D, Wu, CK, Soininen, H, Avramidou, D, Albin, RL, Fratiglioni, L, Germanou, A, Apostolova, LG, Keller, L, Koutroumani, M, Arnold, SE, Panza, F, Gkatzima, O, Asthana, S, Hannequin, D, Whitehead, P, Atwood, CS, Caffarra, P, Hampel, H, Baldwin, CT, Lannfelt, L, Rubinsztein, DC, Barnes, LL, Pasquier, F, Frölich, L, Barral, S, McGuinness, B, Beach, TG, Johnston, JI, Becker, JT, Passmore, P, Bigio, EH, Schott, JM, Bird, TD, Warren, JD, Boeve, BF, Lupton, MK, Bowen, JD, Proitsi, P, Boxer, A, Powell, JF, Burke, JR, Kauwe, JK, Burns, JM, Mancuso, M, Buxbaum, JD, Bonuccelli, U, Cairns, NJ, McQuillin, A, Cao, C, Livingston, G, Carlson, CS, Bass, NJ, Carlsson, CM, Hardy, J, Carney, RM, Bras, J, Carrasquillo, MM, Guerreiro, R, Allen, M, Chui, HC, Fisher, E, Cribbs, DH, Masullo, C, Crocco, EA, DeCarli, C, Bisceglio, G, Dick, M, Ma, L, Duara, R, Graff-Radford, NR, Evans, DA, Hodges, A, Faber, KM, Scherer, M, Fallon, KB, Riemenschneider, M, Fardo, DW, Heun, R, Farlow, MR, Ferris, S, Leber, M, Foroud, TM, Heuser, I, Galasko, DR, Giegling, I, Gearing, M, Hüll, M, Geschwind, DH, Gilbert, JR, Morris, J, Green, RC, Mayo, K, Growdon, JH, Feulner, T, Hamilton, RL, Harrell, LE, Drichel, D, Honig, LS, Cushion, TD, Huentelman, MJ, Hollingworth, P, Hulette, CM, Hyman, BT, Marshall, R, Jarvik, GP, Meggy, A, Abner, E, Menzies, G, Jin, LW, Leonenko, G, Jun, G, Grozeva, D, Karydas, A, Russo, G, Kaye, JA, Kim, R, Jessen, F, Kowall, NW, Vellas, B, Kramer, JH, Vardy, E, LaFerla, FM, Jöckel, KH, Lah, JJ, Dichgans, M, Leverenz, JB, Mann, D, Levey, AI, Pickering-Brown, S, Lieberman, AP, Klopp, N, Lunetta, KL, Wichmann, HE, Lyketsos, CG, Morgan, K, Marson, DC, Brown, K, Martiniuk, F, Medway, C, Mash, DC, Nöthen, MM, Masliah, E, Hooper, NM, McCormick, WC, Daniele, A, McCurry, SM, Bayer, A, McDavid, AN, Gallacher, J, McKee, AC, van den Bussche, H, Mesulam, M, Brayne, C, Miller, BL, Riedel-Heller, S, Miller, CA, Miller, JW, Al-Chalabi, A, Morris, JC, Shaw, CE, Myers, AJ, Wiltfang, J, O’Bryant, S, Coto, E, Olichney, JM, Alvarez, V, Parisi, JE, Singleton, AB, Paulson, HL, Collinge, J, Perry, W, Mead, S, Peskind, E, Rosser, M, Pierce, A, Ryan, N, Poon, WW, Nacmias, B, Potter, H, Sorbi, S, Quinn, JF, Sacchinelli, E, Raj, A, Spalletta, G, Raskind, M, Bossù, P, Reisberg, B, Clarke, R, Reitz, C, S, AD
Published 2019