Genome-wide analyses identify KIF5A as a novel ALS gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls...

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Main Authors: Nicolas, A, Kenna, KP, Renton, AE, Ticozzi, N, Faghri, F, Chia, R, Dominov, JA, Kenna, BJ, Nalls, MA, Keagle, P, Rivera, AM, Van Rheenen, W, Murphy, NA, Van Vugt, JJFA, Geiger, JT, Van Der Spek, RA, Pliner, HA, Shankaracharya, Smith, BN, Marangi, G, Topp, SD, Abramzon, Y, Gkazi, AS, Eicher, JD, Kenna, A, Italsgen Consortium, Mora, G, Calvo, A, Mazzini, L, Riva, N, Mandrioli, J, Caponnetto, C, Battistini, S, Volanti, P, La Bella, V, Conforti, FL, Borghero, G, Messina, S, Simone, IL, Trojsi, F, Salvi, F, Logullo, FO, D'Alfonso, S, Corrado, L, Capasso, M, Ferrucci, L, Genomic Translation For ALS Care (GTAC) Consortium, Moreno, CDAM, Kamalakaran, S, Goldstein, DB, ALS Sequencing Consortium, Gitler, AD, Harris, T, Myers, RM, NYGC ALS Consortium, Phatnani, H, Musunuri, RL, Evani, US, Abhyankar, A, Zody, MC, Answer ALS Foundation, Kaye, J, Finkbeiner, S, Wyman, SK, Lenail, A, Lima, L, Fraenkel, E, Svendsen, CN, Thompson, LM, Van Eyk, JE, Berry, JD, Miller, TM, Kolb, SJ, Cudkowicz, M, Baxi, E, Clinical Research In ALS And Related Disorders For Therapeutic Development (CREATE) Consortium, Benatar, M, Taylor, JP, Rampersaud, E, Wu, G, Wuu, J, Slagen Consortium, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, GP, Sorarù, G, Cereda, C, French ALS Consortium, Corcia, P, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, RW, Sidle, KC, Malaspina, A, Hardy, J, Singleton, AB, Johnson, JO, Arepalli, S, Sapp, PC, McKenna-yasek, D, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, De Belleroche, J, Baas, F, Asbroek, ALMA, Muñoz-Blanco, JL, Hernandez, DG, Ding, J, Gibbs, JR, Scholz, SW, Floeter, MK, Campbell, RH, Landi, F, Bowser, R, Pulst, SM, Ravits, JM, Macgowan, DJL, Kirby, J, Pioro, EP, Pamphlett, R, Broach, J, Gerhard, G, Dunckley, TL, Brady, CB, Kowall, NW, Troncoso, JC, Le Ber, I, Mouzat, K, Lumbroso, S, Heiman-Patterson, TD, Kamel, F, Van Den Bosch, L, Baloh, RH, Strom, TM, Meitinger, T, Shatunov, A, Van Eijk, KR, De Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, McLaughlin, RL, Van Es, MA, Weber, M, Boylan, KB, Van Blitterswijk, M, Rademakers, R, Morrison, KE, Basak, AN, Mora, JS, Drory, VE, Shaw, PJ, Turner, MR, Talbot, K, Hardiman, O, Williams, KL, Fifita, JA, Nicholson, GA, Blair, IP, Rouleau, GA, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Project Mine ALS Sequencing Consortium, Rogaeva, E, Zinman, L, Ostrow, LW, Maragakis, NJ, Rothstein, JD, Simmons, Z, Cooper-Knock, J, Brice, A, Goutman, SA, Feldman, EL, Gibson, SB, Taroni, F, Ratti, A, Gellera, C, Van Damme, P, Robberecht, W, Fratta, P, Sabatelli, M, Lunetta, C, Ludolph, AC, Andersen, PM, Weishaupt, JH, Camu, W, Trojanowski, JQ, Van Deerlin, VM, Brown, RH, Van Den Berg, LH, Veldink, JH, Harms, MB, Glass, JD, Stone, DJ, Tienari, P, Silani, V, Chiò, A, Shaw, CE, Traynor, BJ, Landers, JE
Format: Journal article
Language:English
Published: Cell Press 2018