Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

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Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.14/1208872

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Title: Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
Related: Nature genetics, Vol. 48, No. 9, (2016), p.1043-1048
Funding Body: NHMRC
Grant URL: http://purl.org/au-research/grants/nhmrc/1083187
Grant URL: http://purl.org/au-research/grants/nhmrc/1078901
Grant URL: http://purl.org/au-research/grants/nhmrc/1078037
Grant URL: http://purl.org/au-research/grants/nhmrc/1048853
Grant URL: http://purl.org/au-research/grants/nhmrc/1050218
DOI: 10.1038/ng.3622
Publisher: Nature Publishing Group
Date: 2016
Author/Creator: van Rheenen, Wouter
Author/Creator: Shatunov, Aleksey
Author/Creator: Yang, Jian
Author/Creator: de Visser, Marianne
Author/Creator: Goris, An
Author/Creator: Weber, Markus
Author/Creator: Shaw, Christopher E
Author/Creator: Smith, Bradley N
Author/Creator: Pansarasa, Orietta
Author/Creator: Cereda, Cristina
Author/Creator: Del Bo, Roberto
Author/Creator: Comi, Giacomo P
Author/Creator: D'Alfonso, Sandra
Author/Creator: Fogh, Isabella
Author/Creator: Bertolin, Cinzia
Author/Creator: Sorarù, Gianni
Author/Creator: Mazzini, Letizia
Author/Creator: Pensato, Viviana
Author/Creator: Gellera, Cinzia
Author/Creator: Tiloca, Cinzia
Author/Creator: Ratti, Antonia
Author/Creator: Calvo, Andrea
Author/Creator: Moglia, Cristina
Author/Creator: Brunetti, Maura
Author/Creator: van Doormaal, Perry T. C
Author/Creator: Arcuti, Simona
Author/Creator: Capozzo, Rosa
Author/Creator: Zecca, Chiara
Author/Creator: Lunetta, Christian
Author/Creator: Penco, Silvana
Author/Creator: Riva, Nilo
Author/Creator: Padovani, Alessandro
Author/Creator: Filosto, Massimiliano
Author/Creator: Muller, Bernard
Author/Creator: Stuit, Robbert Jan
Author/Creator: Tazelaar, Gijs H. P
Author/Creator: Blair, Ian
Author/Creator: Zhang, Katharine
Author/Creator: McCann, Emily P
Author/Creator: Fifita, Jennifer A
Author/Creator: Nicholson, Garth A
Author/Creator: Rowe, Dominic B
Author/Creator: Pamphlett, Roger
Author/Creator: Kiernan, Matthew C
Author/Creator: Grosskreutz, Julian
Author/Creator: Witte, Otto W
Author/Creator: Koppers, Max
Author/Creator: Ringer, Thomas
Author/Creator: Prell, Tino
Author/Creator: Stubendorff, Beatrice
Author/Creator: Kurth, Ingo
Author/Creator: Hübner, Christian A
Author/Creator: Leigh, P. Nigel
Author/Creator: Casale, Federico
Author/Creator: Chio, Adrian
Author/Creator: Beghi, Ettore
Author/Creator: Pupillo, Elisabetta
Author/Creator: Blokhuis, Anna M
Author/Creator: Tortelli, Rosanna
Author/Creator: Logroscino, Giancarlo
Author/Creator: Powell, John
Author/Creator: Ludolph, Albert C
Author/Creator: Weishaupt, Jochen H
Author/Creator: Robberecht, Wim
Author/Creator: Van Damme, Philip
Author/Creator: Franke, Lude
Author/Creator: Pers, Tune H
Author/Creator: Brown, Robert H
Author/Creator: Sproviero, William
Author/Creator: Glass, Jonathan D
Author/Creator: Landers, John E
Author/Creator: Hardiman, Orla
Author/Creator: Andersen, Peter M
Author/Creator: Corcia, Philippe
Author/Creator: Vourc'h, Patrick
Author/Creator: Silani, Vincenzo
Author/Creator: Wray, Naomi R
Author/Creator: Visscher, Peter M
Author/Creator: de Bakker, Paul I. W
Author/Creator: Jones, Ashley R
Author/Creator: van Es, Michael A
Author/Creator: Pasterkamp, R. Jeroen
Author/Creator: Lewis, Cathryn M
Author/Creator: Breen, Gerome
Author/Creator: Al-Chalabi, Ammar
Author/Creator: van den Berg, Leonard H
Author/Creator: Veldink, Jan H
Author/Creator: Kenna, Kevin P
Author/Creator: van Eijk, Kristel R
Author/Creator: Dekker, Annelot M
Author/Creator: Harschnitz, Oliver
Author/Creator: Schellevis, Raymond D
Author/Creator: Brands, William J
Author/Creator: Medic, Jelena
Author/Creator: Menelaou, Androniki
Author/Creator: Vajda, Alice
Author/Creator: Ticozzi, Nicola
Author/Creator: Lin, Kuang
Author/Creator: Rogelj, Boris
Author/Creator: Vrabec, Katarina
Author/Creator: McLaughlin, Russell L
Author/Creator: Ravnik-Glavač, Metka
Author/Creator: Koritnik, Blaž
Author/Creator: Zidar, Janez
Author/Creator: Leonardis, Lea
Author/Creator: Grošelj, Leja Dolenc
Author/Creator: Millecamps, Stéphanie
Author/Creator: Salachas, François
Author/Creator: Meininger, Vincent
Author/Creator: de Carvalho, Mamede
Author/Creator: Pinto, Susana
Author/Creator: Diekstra, Frank P
Author/Creator: Mora, Jesus S
Author/Creator: Rojas-García, Ricardo
Author/Creator: Polak, Meraida
Author/Creator: Chandran, Siddharthan
Author/Creator: Colville, Shuna
Author/Creator: Swingler, Robert
Author/Creator: Morrison, Karen E
Author/Creator: Shaw, Pamela J
Author/Creator: Hardy, John
Author/Creator: Orrell, Richard W
Author/Creator: Pulit, Sara L
Author/Creator: Pittman, Alan
Author/Creator: Sidle, Katie
Author/Creator: Fratta, Pietro
Author/Creator: Malaspina, Andrea
Author/Creator: Topp, Simon
Author/Creator: Petri, Susanne
Author/Creator: Abdulla, Susanne
Author/Creator: Drepper, Carsten
Author/Creator: Sendtner, Michael
Author/Creator: Meyer, Thomas
Author/Creator: van der Spek, Rick A. A
Author/Creator: Ophoff, Roel A
Author/Creator: Staats, Kim A
Author/Creator: Wiedau-Pazos, Martina
Author/Creator: Lomen-Hoerth, Catherine
Author/Creator: Van Deerlin, Vivianna M
Author/Creator: Trojanowski, John Q
Author/Creator: Elman, Lauren
Author/Creator: McCluskey, Leo
Author/Creator: Basak, A. Nazli
Author/Creator: Tunca, Ceren
Author/Creator: Võsa, Urmo
Author/Creator: Hamzeiy, Hamid
Author/Creator: Parman, Yesim
Author/Creator: Meitinger, Thomas
Author/Creator: Lichtner, Peter
Author/Creator: Radivojkov-Blagojevic, Milena
Author/Creator: Andres, Christian R
Author/Creator: Maurel, Cindy
Author/Creator: Bensimon, Gilbert
Author/Creator: Landwehrmeyer, Bernhard
Author/Creator: Brice, Alexis
Author/Creator: de Jong, Simone
Author/Creator: Payan, Christine A. M
Author/Creator: Saker-Delye, Safaa
Author/Creator: Dürr, Alexandra
Author/Creator: Wood, Nicholas W
Author/Creator: Tittmann, Lukas
Author/Creator: Lieb, Wolfgang
Author/Creator: Franke, Andre
Author/Creator: Rietschel, Marcella
Author/Creator: Cichon, Sven
Author/Creator: Nöthen, Markus M
Author/Creator: Robinson, Matthew R
Author/Creator: Amouyel, Philippe
Author/Creator: Tzourio, Christophe
Author/Creator: Dartigues, Jean-François
Author/Creator: Uitterlinden, Andre G
Author/Creator: Rivadeneira, Fernando
Author/Creator: Estrada, Karol
Author/Creator: Hofman, Albert
Author/Creator: Curtis, Charles
Author/Creator: Blauw, Hylke M
Author/Creator: van der Kooi, Anneke J
Description: To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk. In addition, we identified MOBP and SCFD1 as new associated risk loci. We established evidence of ALS being a complex genetic trait with a polygenic architecture. Furthermore, we estimated the SNP-based heritability at 8.5%, with a distinct and important role for low-frequency variants (frequency 1–10%). This study motivates the interrogation of larger samples with full genome coverage to identify rare causal variants that underpin ALS risk.
Description: 6 page(s)
Resource Type: journal article
Organisation: Macquarie University. Department of Clinical Medicine

Identifier: http://hdl.handle.net/1959.14/1208872
Identifier: mq:63336
Identifier: ISSN:1061-4036
Identifier: mq-rm-2014008638
Identifier: mq_res-se-556539
Language: eng
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