Sökning: WFRF:(Chiò A) > McLaughlin Russell L > Tiloca Cinzia > Genome-wide associa...
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000 | 09247naa a2202413 4500 | |
001 | oai:DiVA.org:umu-126299 | |
003 | SwePub | |
008 | 161003s2016 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1262992 URI |
024 | 7 | a https://doi.org/10.1038/ng.36222 DOI |
040 | a (SwePub)umu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a van Rheenen, Wouter4 aut |
245 | 1 0 | a Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis |
264 | c 2016-07-25 | |
264 | 1 | b Springer Science and Business Media LLC,c 2016 |
338 | a print2 rdacarrier | |
520 | a 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. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
700 | 1 | a Shatunov, Aleksey4 aut |
700 | 1 | a Dekker, Annelot M.4 aut |
700 | 1 | a McLaughlin, Russell L.4 aut |
700 | 1 | a Diekstra, Frank P.4 aut |
700 | 1 | a Pulit, Sara L.4 aut |
700 | 1 | a van der Spek, Rick A. A.4 aut |
700 | 1 | a Vosa, Urmo4 aut |
700 | 1 | a de Jong, Simone4 aut |
700 | 1 | a Robinson, Matthew R.4 aut |
700 | 1 | a Yang, Jian4 aut |
700 | 1 | a Fogh, Isabella4 aut |
700 | 1 | a van Doormaal, Perry T. C.4 aut |
700 | 1 | a Tazelaar, Gijs H. P.4 aut |
700 | 1 | a Koppers, Max4 aut |
700 | 1 | a Blokhuis, Anna M.4 aut |
700 | 1 | a Sproviero, William4 aut |
700 | 1 | a Jones, Ashley R.4 aut |
700 | 1 | a Kenna, Kevin P.4 aut |
700 | 1 | a van Eijk, Kristel R.4 aut |
700 | 1 | a Harschnitz, Oliver4 aut |
700 | 1 | a Schellevis, Raymond D.4 aut |
700 | 1 | a Brands, William J.4 aut |
700 | 1 | a Medic, Jelena4 aut |
700 | 1 | a Menelaou, Androniki4 aut |
700 | 1 | a Vajda, Alice4 aut |
700 | 1 | a Ticozzi, Nicola4 aut |
700 | 1 | a Lin, Kuang4 aut |
700 | 1 | a Rogelj, Boris4 aut |
700 | 1 | a Vrabec, Katarina4 aut |
700 | 1 | a Ravnik-Glavac, Metka4 aut |
700 | 1 | a Koritnik, Blazi4 aut |
700 | 1 | a Zidar, Janez4 aut |
700 | 1 | a Leonardis, Lea4 aut |
700 | 1 | a Groselj, Leja Dolenc4 aut |
700 | 1 | a Millecamps, Stephanie4 aut |
700 | 1 | a Salachas, Francois4 aut |
700 | 1 | a Meininger, Vincent4 aut |
700 | 1 | a de Carvalho, Mamede4 aut |
700 | 1 | a Pinto, Susana4 aut |
700 | 1 | a Mora, Jesus S.4 aut |
700 | 1 | a Rojas-Garcia, Ricardo4 aut |
700 | 1 | a Polak, Meraida4 aut |
700 | 1 | a Chandran, Siddharthan4 aut |
700 | 1 | a Colville, Shuna4 aut |
700 | 1 | a Swingler, Robert4 aut |
700 | 1 | a Morrison, Karen E.4 aut |
700 | 1 | a Shaw, Pamela J.4 aut |
700 | 1 | a Hardy, John4 aut |
700 | 1 | a Orrell, Richard W.4 aut |
700 | 1 | a Pittman, Alan4 aut |
700 | 1 | a Sidle, Katie4 aut |
700 | 1 | a Fratta, Pietro4 aut |
700 | 1 | a Malaspina, Andrea4 aut |
700 | 1 | a Topp, Simon4 aut |
700 | 1 | a Petri, Susanne4 aut |
700 | 1 | a Abdulla, Susanne4 aut |
700 | 1 | a Drepper, Carsten4 aut |
700 | 1 | a Sendtner, Michael4 aut |
700 | 1 | a Meyer, Thomas4 aut |
700 | 1 | a Ophoff, Roel A.4 aut |
700 | 1 | a Staats, Kim A.4 aut |
700 | 1 | a Wiedau-Pazos, Martina4 aut |
700 | 1 | a Lomen-Hoerth, Catherine4 aut |
700 | 1 | a Van Deerlin, Vivianna M.4 aut |
700 | 1 | a Trojanowski, John Q.4 aut |
700 | 1 | a Elman, Lauren4 aut |
700 | 1 | a McCluskey, Leo4 aut |
700 | 1 | a Basak, A. Nazli4 aut |
700 | 1 | a Tunca, Ceren4 aut |
700 | 1 | a Hamzeiy, Hamid4 aut |
700 | 1 | a Parman, Yesim4 aut |
700 | 1 | a Meitinger, Thomas4 aut |
700 | 1 | a Lichtner, Peter4 aut |
700 | 1 | a Radivojkov-Blagojevic, Milena4 aut |
700 | 1 | a Andres, Christian R.4 aut |
700 | 1 | a Maurel, Cindy4 aut |
700 | 1 | a Bensimon, Gilbert4 aut |
700 | 1 | a Landwehrmeyer, Bernhard4 aut |
700 | 1 | a Brice, Alexis4 aut |
700 | 1 | a Payan, Christine A. M.4 aut |
700 | 1 | a Saker-Delye, Safaa4 aut |
700 | 1 | a Duerr, Alexandra4 aut |
700 | 1 | a Wood, Nicholas W.4 aut |
700 | 1 | a Tittmann, Lukas4 aut |
700 | 1 | a Lieb, Wolfgang4 aut |
700 | 1 | a Franke, Andre4 aut |
700 | 1 | a Rietschel, Marcella4 aut |
700 | 1 | a Cichon, Sven4 aut |
700 | 1 | a Noethen, Markus M.4 aut |
700 | 1 | a Amouyel, Philippe4 aut |
700 | 1 | a Tzourio, Christophe4 aut |
700 | 1 | a Dartigues, Jean-Francois4 aut |
700 | 1 | a Uitterlinden, Andre G.4 aut |
700 | 1 | a Rivadeneira, Fernando4 aut |
700 | 1 | a Estrada, Karol4 aut |
700 | 1 | a Hofman, Albert4 aut |
700 | 1 | a Curtis, Charles4 aut |
700 | 1 | a Blauw, Hylke M.4 aut |
700 | 1 | a van der Kooi, Anneke J.4 aut |
700 | 1 | a de Visser, Marianne4 aut |
700 | 1 | a Goris, An4 aut |
700 | 1 | a Weber, Markus4 aut |
700 | 1 | a Shaw, Christopher E.4 aut |
700 | 1 | a Smith, Bradley N.4 aut |
700 | 1 | a Pansarasa, Orietta4 aut |
700 | 1 | a Cereda, Cristina4 aut |
700 | 1 | a Del Bo, Roberto4 aut |
700 | 1 | a Comi, Giacomo P.4 aut |
700 | 1 | a D'Alfonso, Sandra4 aut |
700 | 1 | a Bertolin, Cinzia4 aut |
700 | 1 | a Soraru, Gianni4 aut |
700 | 1 | a Mazzini, Letizia4 aut |
700 | 1 | a Pensato, Viviana4 aut |
700 | 1 | a Gellera, Cinzia4 aut |
700 | 1 | a Tiloca, Cinzia4 aut |
700 | 1 | a Ratti, Antonia4 aut |
700 | 1 | a Calvo, Andrea4 aut |
700 | 1 | a Moglia, Cristina4 aut |
700 | 1 | a Brunetti, Maura4 aut |
700 | 1 | a Arcuti, Simona4 aut |
700 | 1 | a Capozzo, Rosa4 aut |
700 | 1 | a Zecca, Chiara4 aut |
700 | 1 | a Lunetta, Christian4 aut |
700 | 1 | a Penco, Silvana4 aut |
700 | 1 | a Riva, Nilo4 aut |
700 | 1 | a Padovani, Alessandro4 aut |
700 | 1 | a Filosto, Massimiliano4 aut |
700 | 1 | a Muller, Bernard4 aut |
700 | 1 | a Stuit, Robbert Jan4 aut |
700 | 1 | a Blair, Ian4 aut |
700 | 1 | a Zhang, Katharine4 aut |
700 | 1 | a McCann, Emily P.4 aut |
700 | 1 | a Fifita, Jennifer A.4 aut |
700 | 1 | a Nicholson, Garth A.4 aut |
700 | 1 | a Rowe, Dominic B.4 aut |
700 | 1 | a Pamphlett, Roger4 aut |
700 | 1 | a Kiernan, Matthew C.4 aut |
700 | 1 | a Grosskreutz, Julian4 aut |
700 | 1 | a Witte, Otto W.4 aut |
700 | 1 | a Ringer, Thomas4 aut |
700 | 1 | a Prell, Tino4 aut |
700 | 1 | a Stubendorff, Beatrice4 aut |
700 | 1 | a Kurth, Ingo4 aut |
700 | 1 | a Huebner, Christian A.4 aut |
700 | 1 | a Leigh, P. Nigel4 aut |
700 | 1 | a Casale, Federico4 aut |
700 | 1 | a Chio, Adrian4 aut |
700 | 1 | a Beghi, Ettore4 aut |
700 | 1 | a Pupillo, Elisabetta4 aut |
700 | 1 | a Tortelli, Rosanna4 aut |
700 | 1 | a Logroscino, Giancarlo4 aut |
700 | 1 | a Powell, John4 aut |
700 | 1 | a Ludolph, Albert C.4 aut |
700 | 1 | a Weishaupt, Jochen H.4 aut |
700 | 1 | a Robberecht, Wim4 aut |
700 | 1 | a Van Damme, Philip4 aut |
700 | 1 | a Franke, Lude4 aut |
700 | 1 | a Pers, Tune H.4 aut |
700 | 1 | a Brown, Robert H.4 aut |
700 | 1 | a Glass, Jonathan D.4 aut |
700 | 1 | a Landers, John E.4 aut |
700 | 1 | a Hardiman, Orla4 aut |
700 | 1 | a Andersen, Peter M.u Umeå universitet,Klinisk neurovetenskap,Department of Neurology, Ulm University, Ulm, Germany4 aut0 (Swepub:umu)pean0001 |
700 | 1 | a Corcia, Philippe4 aut |
700 | 1 | a Vourc'h, Patrick4 aut |
700 | 1 | a Silani, Vincenzo4 aut |
700 | 1 | a Wray, Naomi R.4 aut |
700 | 1 | a Visscher, Peter M.4 aut |
700 | 1 | a de Bakker, Paul I. W.4 aut |
700 | 1 | a van Es, Michael A.4 aut |
700 | 1 | a Pasterkamp, R. Jeroen4 aut |
700 | 1 | a Lewis, Cathryn M.4 aut |
700 | 1 | a Breen, Gerome4 aut |
700 | 1 | a Al-Chalabi, Ammar4 aut |
700 | 1 | a van den Berg, Leonard H.4 aut |
700 | 1 | a Veldink, Jan H.4 aut |
710 | 2 | a Umeå universitetb Klinisk neurovetenskap4 org |
773 | 0 | t Nature Geneticsd : Springer Science and Business Media LLCg 48:9, s. 1043-1048q 48:9<1043-1048x 1061-4036x 1546-1718 |
856 | 4 | u https://lirias.kuleuven.be/bitstream/123456789/547551/1/Van%20Rheenen_Nat%20Genetics_2016.pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-126299 |
856 | 4 8 | u https://doi.org/10.1038/ng.3622 |
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