Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates A beta, tau, immunity and lipid processing

Autor: KUNKLE, B. W., GRENIER-BOLEY, B., SIMS, R., BIS, J. C., DAMOTTE, V., NAJ, A. C., BOLAND, A., VRONSKAYA, M., VAN DER LEE, S. J., AMLIE-WOLF, A., BELLENGUEZ, C., FRIZATTI, A., CHOURAKI, V., MARTIN, E. R., SLEEGERS, K., BADARINARAYAN, N., JAKOBSDOTTIR, J., HAMILTON-NELSON, K. L., MORENO-GRAU, S., OLASO, R., RAYBOULD, R., CHEN, Y., KUZMA, A. B., HILTUNEN, M., MORGAN, T., AHMAD, S., VARDARAJAN, B. N., EPELBAUM, J., HOFFMANN, P., BOADA, M., BEECHAM, G. W., GARNIER, J. G., HAROLD, D., FITZPATRICK, A. L., VALLADARES, O., MOUTET, M. L., GERRISH, A., SMITH, A. V., QU, L., BACQ, D., DENNING, N., JIAN, X., ZHAO, Y., DEL ZOMPO, M., FOX, N. C., CHOI, S. H., MATEO, I., HUGHES, J. T., ADAMS, H. H., MALAMON, J., SANCHEZ-GARCIA, F., PATEL, Y., BRODY, J. A., DOMBROSKI, B. A., NARANJO, M. C. D., DANIILIDOU, M., EIRIKSDOTTIR, G., MUKHERJEE, S., WALLON, D., UPHILL, J., ASPELUND, T., CANTWELL, L. B., GARZIA, F., GALIMBERTI, D., HOFER, E., BUTKIEWICZ, M., FIN, B., SCARPINI, E., SARNOWSKI, C., BUSH, W. S., MESLAGE, S., KORNHUBER, J., WHITE, C. C., SONG, Y., BARBER, R. C., ENGELBORGHS, S., SORDON, S., VOIJNOVIC, D., ADAMS, P. M., VANDENBERGHE, R., MAYHAUS, M., CUPPLES, L. A., ALBERT, M. S., DE DEYN, P. P., GU, W., HIMALI, J. J., BEEKLY, D., SQUASSINA, A., HARTMANN, A. M., ORELLANA, A., BLACKER, D., RODRIGUEZ-RODRIGUEZ, E., LOVESTONE, S., GARCIA, M. E., DOODY, R. S., MUNOZ-FERNADEZ, C., SUSSAMS, R., LIN, H., FAIRCHILD, T. J., BENITO, Y. A., HOLMES, C., KARAMUJIC-COMIC, H., FROSCH, M. P., THONBERG, H., MAIER, W., ROSCHUPKIN, G., GHETTI, B., GIEDRAITIS, V., KAWALIA, A., LI, S., HUEBINGER, R. M., KILANDER, L., MOEBUS, S., HERNANDEZ, I., KAMBOH, M. I., BRUNDIN, R., TURTON, J., YANG, Q., KATZ, M. J., CONCARI, L., LORD, J., BEISER, A. S., KEENE, C. D., HELISALMI, S., KLOSZEWSKA, I., KUKULL, W. A., KOIVISTO, A. M., LYNCH, A., TARRAGA, L., LARSON, E. B., HAAPASALO, A., LAWLOR, B., MOSLEY, T. H., LIPTON, R. B., SOLFRIZZI, V., GILL, M., LONGSTRETH, W. T. Jr., MONTINE, T. J., FRISARDI, V., DIEZ-FAIREN, M., RIVADENEIRA, F., PETERSEN, R. C., DERAMECOURT, V., ALVAREZ, I., SALANI, F., CIARAMELLA, A., BOERWINKLE, E., REIMAN, E. M., FIEVET, N., ROTTER, J. I., REISCH, J. S., HANON, O., CUPIDI, C., ANDRE UITTERLINDEN, A. G., ROYALL, D. R., DUFOUIL, Carole, MALETTA, R. G., DE ROJAS, I., SANO, M., BRICE, A., CECCHETTI, R., GEORGE-HYSLOP, P. S., RITCHIE, K., TSOLAKI, M., TSUANG, D. W., DUBOIS, B., CRAIG, D., WU, C. K., SOININEN, H., AVRAMIDOU, D., ALBIN, R. L., FRATIGLIONI, L., GERMANOU, A., APOSTOLOVA, L. G., KELLER, L., KOUTROUMANI, M., ARNOLD, S. E., PANZA, F., GKATZIMA, O., ASTHANA, S., HANNEQUIN, D., WHITEHEAD, P., ATWOOD, C. S., CAFFARRA, P., HAMPEL, H., QUINTELA, I., CARRACEDO, A., LANNFELT, L., RUBINSZTEIN, D. C., BARNES, L. L., PASQUIER, F., FROLICH, L., BARRAL, S., MCGUINNESS, B., BEACH, T. G., JOHNSTON, J. A., BECKER, J. T., PASSMORE, P., BIGIO, E. H., SCHOTT, J. M., BIRD, T. D., WARREN, J. D., BOEVE, B. F., LUPTON, M. K., BOWEN, J. D., PROITSI, P., BOXER, A., POWELL, J. F., BURKE, J. R., KAUWE, J. S. K., BURNS, J. M., MANCUSO, M., BUXBAUM, J. D., BONUCCELLI, U., CAIRNS, N. J., MCQUILLIN, A., CAO, C., LIVINGSTON, G., CARLSON, C. S., BASS, N. J., CARLSSON, C. M., HARDY, J., CARNEY, R. M., BRAS, J., CARRASQUILLO, M. M., GUERREIRO, R., ALLEN, M., CHUI, H. C., FISHER, E., MASULLO, C., CROCCO, E. A., DECARLI, C., BISCEGLIO, G., DICK, M., MA, L., DUARA, R., GRAFF-RADFORD, N. R., EVANS, D. A., HODGES, A., FABER, K. M., SCHERER, M., FALLON, K. B., RIEMENSCHNEIDER, M., FARDO, D. W., HEUN, R., FARLOW, M. R., KOLSCH, H., FERRIS, S., LEBER, M., FOROUD, T. M., HEUSER, I., GALASKO, D. R., GIEGLING, I., GEARING, M., HULL, M., GESCHWIND, D. H., GILBERT, J. R., MORRIS, J., GREEN, R. C., MAYO, K., GROWDON, J. H., FEULNER, T., HAMILTON, R. L., HARRELL, L. E., DRICHEL, D., HONIG, L. S., CUSHION, T. D., HUENTELMAN, M. J., HOLLINGWORTH, P., HULETTE, C. M., HYMAN, B. T., MARSHALL, R., JARVIK, G. P., MEGGY, A., ABNER, E., MENZIES, G. E., JIN, L. W., LEONENKO, G., REAL, L. M., JUN, G. R., BALDWIN, C. T., GROZEVA, D., KARYDAS, A., RUSSO, G., KAYE, J. A., KIM, R., JESSEN, F., KOWALL, N. W., VELLAS, B., KRAMER, J. H., VARDY, E., LAFERLA, F. M., JOCKEL, K. H., LAH, J. J., DICHGANS, M., LEVERENZ, J. B., MANN, D., LEVEY, A. I., PICKERING-BROWN, S., LIEBERMAN, A. P., KLOPP, N., LUNETTA, K. L., WICHMANN, H. E., LYKETSOS, C. G., MORGAN, K., MARSON, D. C., BROWN, K., MARTINIUK, F., MEDWAY, C., MASH, D. C., NOTHEN, M. M., MASLIAH, E., HOOPER, N. M., MCCORMICK, W. C., DANIELE, A., MCCURRY, S. M., BAYER, A., MCDAVID, A. N., GALLACHER, J., MCKEE, A. C., VAN DEN BUSSCHE, H., MESULAM, M., BRAYNE, C., MILLER, B. L., RIEDEL-HELLER, S., MILLER, C. A., MILLER, J. W., AL-CHALABI, A., MORRIS, J. C., SHAW, C. E., MYERS, A. J., WILTFANG, J., O'BRYANT, S., OLICHNEY, J. M., ALVAREZ, V., PARISI, J. E., SINGLETON, A. B., PAULSON, H. L., COLLINGE, J., PERRY, W. R., MEAD, S., PESKIND, E., CRIBBS, D. H., ROSSOR, M., PIERCE, A., RYAN, N. S., POON, W. W., NACMIAS, B., POTTER, H., SORBI, S., QUINN, J. F., SACCHINELLI, E., RAJ, A., SPALLETTA, G., RASKIND, M., CALTAGIRONE, C., BOSSU, P., ORFEI, M. D., REISBERG, B., CLARKE, R., REITZ, C., SMITH, A. D., RINGMAN, J. M., WARDEN, D., ROBERSON, E. D., WILCOCK, G., ROGAEVA, E., BRUNI, A. C., ROSEN, H. J., GALLO, M., ROSENBERG, R. N., BEN-SHLOMO, Y., SAGER, M. A., MECOCCI, P., SAYKIN, A. J., PASTOR, P., CUCCARO, M. L., VANCE, J. M., SCHNEIDER, J. A., SCHNEIDER, L. S., SLIFER, S., SEELEY, W. W., SMITH, A. G., SONNEN, J. A., SPINA, S., STERN, R. A., SWERDLOW, R. H., TANG, M., TANZI, R. E., TROJANOWSKI, J. Q., TRONCOSO, J. C., VAN DEERLIN, V. M., VAN ELDIK, L. J., VINTERS, H. V., VONSATTEL, J. P., WEINTRAUB, S., WELSH-BOHMER, K. A., WILHELMSEN, K. C., WILLIAMSON, J., WINGO, T. S., WOLTJER, R. L., WRIGHT, C. B., YU, C. E., YU, L., SABA, Y., ALZHEIMER DISEASE GENETICS, Consortium, EUROPEAN ALZHEIMER'S DISEASE, Initiative, COHORTS FOR, Heart, AGING RESEARCH IN GENOMIC EPIDEMIOLOGY, Consortium, GENETIC ENVIRONMENTAL RISK IN AD/DEFINING GENETIC, Polygenic, ENVIRONMENTAL RISK FOR ALZHEIMER'S DISEASE, Consortium, PILOTTO, A., BULLIDO, M. J., PETERS, O., CRANE, P. K., BENNETT, D., BOSCO, P., COTO, E., BOCCARDI, V., DE JAGER, P. L., LLEO, A., WARNER, N., LOPEZ, O. L., INGELSSON, M., DELOUKAS, P., CRUCHAGA, C., GRAFF, C., GWILLIAM, R., FORNAGE, M., GOATE, A. M., SANCHEZ-JUAN, P., KEHOE, P. G., AMIN, N., ERTEKIN-TANER, N., BERR, C., DEBETTE, Stephanie, LOVE, S., LAUNER, L. J., YOUNKIN, S. G., DARTIGUES, Jean-Francois, CORCORAN, C., IKRAM, M. A., DICKSON, D. W., NICOLAS, G., CAMPION, D., TSCHANZ, J., SCHMIDT, H., HAKONARSON, H., CLARIMON, J., MUNGER, R., SCHMIDT, R., FARRER, L. A., VAN BROECKHOVEN, C., M, C. O' Donovan, DESTEFANO, A. L., JONES, L., HAINES, J. L., DELEUZE, J. F., OWEN, M. J., GUDNASON, V., MAYEUX, R., ESCOTT-PRICE, V., PSATY, B. M., RAMIREZ, A., WANG, L. S., RUIZ, A., VAN DUIJN, C. M., HOLMANS, P. A., SESHADRI, S., WILLIAMS, J., AMOUYEL, P., SCHELLENBERG, G. D., LAMBERT, J. C., PERICAK-VANCE, M. A.

Publikováno v: NATURE GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Nature Genetics, 51(3), 414-+. Nature Publishing Group
2019, ' Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing ', Nature Genetics, vol. 51, no. 3, pp. 414-430 . https://doi.org/10.1038/s41588-019-0358-2
Nature Genetics, 51(3), 414-430. Nature Publishing Group
Kunkle, B W, Grenier-Boley, B, Sims, R, Bis, J C, Damotte, V, Naj, A C, Boland, A, Vronskaya, M, van der Lee, S J, Amlie-Wolf, A, Bellenguez, C, Frizatti, A, Chouraki, V, Martin, E R, Sleegers, K, Badarinarayan, N, Jakobsdottir, J, Hamilton-Nelson, K L, Moreno-Grau, S, Olaso, R, Raybould, R, Chen, Y, Kuzma, A B, Hiltunen, M, Morgan, T, Ahmad, S, Vardarajan, B N, Epelbaum, J, Hoffmann, P, Boada, M, Beecham, G W, Garnier, J G, Harold, D, Fitzpatrick, A L, Valladares, O, Moutet, M L, Gerrish, A, Smith, A V, Qu, L, Bacq, D, Denning, N, Jian, X, Zhao, Y, Del Zompo, M, Fox, N C, Choi, S H, Mateo, I, Hughes, J T, Adams, H H, Malamon, J, Sanchez-Garcia, F, Patel, Y, Brody, J A, Dombroski, B A, Naranjo, M C D, Daniilidou, M, Eiriksdottir, G, Mukherjee, S, Wallon, D, Uphill, J, Aspelund, T, Cantwell, L B, Garzia, F, Galimberti, D, Hofer, E, Butkiewicz, M, Fin, B, Scarpini, E, Sarnowski, C, Bush, W S, Meslage, S, Kornhuber, J, White, C C, Song, Y, Barber, R C, Engelborghs, S, Sordon, S, Voijnovic, D, Adams, P M, Vandenberghe, R, Mayhaus, M, Cupples, L A, Albert, M S, De Deyn, P P, Gu, W, Himali, J J, Beekly, D, Squassina, A, Hartmann, A M, Orellana, A, Blacker, D, Rodriguez-Rodriguez, E, Lovestone, S, Garcia, M E, Doody, R S, Munoz-Fernadez, C, Sussams, R, Lin, H, Fairchild, T J, Benito, Y A, Holmes, C, Karamujić-Čomić, H, Frosch, M P, Thonberg, H, Maier, W, Roschupkin, G, Ghetti, B, Giedraitis, V, Kawalia, A, Li, S, Huebinger, R M, Kilander, L, Moebus, S, Hernández, I, Kamboh, M I, Brundin, R M, Turton, J, Yang, Q, Katz, M J, Concari, L, Lord, J, Beiser, A S, Keene, C D, Helisalmi, S, Kloszewska, I, Kukull, W A, Koivisto, A M, Lynch, A, Tarraga, L, Larson, E B, Haapasalo, A, Lawlor, B, Mosley, T H, Lipton, R B, Solfrizzi, V, Gill, M, Longstreth, W T, Montine, T J, Frisardi, V, Diez-Fairen, M, Rivadeneira, F, Petersen, R C, Deramecourt, V, Alvarez, I, Salani, F, Ciaramella, A, Boerwinkle, E, Reiman, E M, Fievet, N, Rotter, J I, Reisch, J S, Hanon, O, Cupidi, C, Andre Uitterlinden, A G, Royall, D R, Dufouil, C, Maletta, R G, de Rojas, I, Sano, M, Brice, A, Cecchetti, R, George-Hyslop, P S, Ritchie, K, Tsolaki, M, Tsuang, D W, Dubois, B, Craig, D, Wu, C K, Soininen, H, Avramidou, D, Albin, R L, Fratiglioni, L, Germanou, A, Apostolova, L G, Keller, L, Koutroumani, M, Arnold, S E, Panza, F, Gkatzima, O, Asthana, S, Hannequin, D, Whitehead, P, Atwood, C S, Caffarra, P, Hampel, H, Quintela, I, Carracedo, Á, Lannfelt, L, Rubinsztein, D C, Barnes, L L, Pasquier, F, Frölich, L, Barral, S, McGuinness, B, Beach, T G, Johnston, J A, Becker, J T, Passmore, P, Bigio, E H, Schott, J M, Bird, T D, Warren, J D, Boeve, B F, Lupton, M K, Bowen, J D, Proitsi, P, Boxer, A, Powell, J F, Burke, J R, Kauwe, J S K, Burns, J M, Mancuso, M, Buxbaum, J D, Bonuccelli, U, Cairns, N J, McQuillin, A, Cao, C, Livingston, G, Carlson, C S, Bass, N J, Carlsson, C M, Hardy, J, Carney, R M, Bras, J, Carrasquillo, M M, Guerreiro, R, Allen, M, Chui, H C, Fisher, E, Masullo, C, Crocco, E A, DeCarli, C, Bisceglio, G, Dick, M, Ma, L, Duara, R, Graff-Radford, N R, Evans, D A, Hodges, A, Faber, K M, Scherer, M, Fallon, K B, Riemenschneider, M, Fardo, D W, Heun, R, Farlow, M R, Kölsch, H, Ferris, S, Leber, M, Foroud, T M, Heuser, I, Galasko, D R, Giegling, I, Gearing, M, Hüll, M, Geschwind, D H, Gilbert, J R, Morris, J C, Green, R C, Mayo, K, Growdon, J H, Feulner, T, Hamilton, R L, Harrell, L E, Drichel, D, Honig, L S, Cushion, T D, Huentelman, M J, Hollingworth, P, Hulette, C M, Hyman, B T, Marshall, R, Jarvik, G P, Meggy, A, Abner, E, Menzies, G E, Jin, L W, Leonenko, G, Real, L M, Jun, G R, Baldwin, C T, Grozeva, D, Karydas, A, Russo, G, Kaye, J A, Kim, R, Jessen, F, Kowall, N W, Vellas, B, Kramer, J H, Vardy, E, LaFerla, F M, Jöckel, K H, Lah, J J, Dichgans, M, Leverenz, J B, Mann, D, Levey, A I, Pickering-Brown, S, Lieberman, A P, Klopp, N, Lunetta, K L, Wichmann, H E, Lyketsos, C G, Morgan, K, Marson, D C, Brown, K, Martiniuk, F, Medway, C, Mash, D C, Nöthen, M M, Masliah, E, Hooper, N M, McCormick, W C, Daniele, A, McCurry, S M, Bayer, A, McDavid, A N, Gallacher, J, McKee, A C, van den Bussche, H, Mesulam, M, Brayne, C, Miller, B L, Riedel-Heller, S, Miller, C A, Miller, J W, Al-Chalabi, A, Morris, J C, Shaw, C E, Myers, A J, Wiltfang, J, O’Bryant, S, Olichney, J M, Alvarez, V, Parisi, J E, Singleton, A B, Paulson, H L, Collinge, J, Perry, W R, Mead, S, Peskind, E, Cribbs, D H, Rossor, M, Pierce, A, Ryan, N S, Poon, W W, Nacmias, B, Potter, H, Sorbi, S, Quinn, J G, Sacchinelli, E, Raj, A, Spalletta, G, Raskind, M, Caltagirone, C, Bossù, P, Orfei, M D, Reisberg, B, Clarke, R, Reitz, C, Smith, A D, Ringman, J M, Warden, D, Roberson, E D, Wilcock, G, Rogaeva, E, Bruni, A C, Rosen, H J, Gallo, M, Rosenberg, R N, Ben-Shlomo, Y, Sager, M A, Mecocci, P, Saykin, A J, Pastor, P, Cuccaro, M L, Vance, J M, Schneider, J A, Schneider, L S, Slifer, S, Seeley, W W, Smith, A G, Sonnen, J A, Spina, S, Stern, R A, Swerdlow, R H, Tang, M, Tanzi, R E, Trojanowski, J Q, Troncoso, J C, Van Deerlin, V M, Van Eldik, L J, Vinters, H V, Vonsattel, J P, Weintraub, S, Welsh-Bohmer, K A, Wilhelmsen, K C, Williamson, J, Wingo, T S, Woltjer, R L, Wright, C B, Yu, C E, Yu, L, Saba, Y, Pilotto, A, Bullido, M J, Peters, O, Crane, P K, Bennett, D, Bosco, P, Coto, E, Boccardi, V, De Jager, P L, Lleo, A, Warner, N, Lopez, O L, Ingelsson, M, Deloukas, P, Cruchaga, C, Graff, C, Gwilliam, R, Fornage, M, Goate, A M, Sanchez-Juan, P, Kehoe, P G, Amin, N, Ertekin-Taner, N, Berr, C, Debette, S, Love, S, Launer, L J, Younkin, S G, Dartigues, J F, Corcoran, C, Ikram, M A, Dickson, D W, Nicolas, G, Campion, D, Tschanz, J A, Schmidt, H, Hakonarson, H, Clarimon, J, Munger, R, Schmidt, R, Farrer, L A, Van Broeckhoven, C, C. O’Donovan, M, DeStefano, A L, Jones, L, Haines, J L, Deleuze, J F, Owen, M J, Gudnason, V, Mayeux, R, Escott-Price, V, Psaty, B M, Ramirez, A, Wang, L S, Ruiz, A, van Duijn, C M, Holmans, P A, Seshadri, S, Williams, J, Amouyel, P, Schellenberg, G D, Lambert, J C & Pericak-Vance, M A 2019, ' Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing ', Nature Genetics, vol. 51, no. 3, pp. 414-430 . https://doi.org/10.1038/s41588-019-0358-2
Nature Genetics
Nature Genetics, Nature Publishing Group, 2019, 51 (3), pp.414-430. ⟨10.1038/s41588-019-0358-2⟩
Nature genetics 51(3), 414-430 (2019). doi:10.1038/s41588-019-0358-2
Nature genetics

Risk for late-onset Alzheimers disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association meta-analysis of clinically diagnosed LOAD (94,437 individuals). We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::add799dc916d15d988736a5377ca2978
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=2946