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

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Fältnamn	Indikatorer	Metadata
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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Av författaren/redakt...: van Rheenen, Wou ...; Shatunov, Alekse ...; Dekker, Annelot ...; McLaughlin, Russ ...; Diekstra, Frank ...; Pulit, Sara L.; visa fler...; van der Spek, Ri ...; Vosa, Urmo; de Jong, Simone; Robinson, Matthe ...; Yang, Jian; Fogh, Isabella; van Doormaal, Pe ...; Tazelaar, Gijs H ...; Koppers, Max; Blokhuis, Anna M ...; Sproviero, Willi ...; Jones, Ashley R.; Kenna, Kevin P.; van Eijk, Kriste ...; Harschnitz, Oliv ...; Schellevis, Raym ...; Brands, William ...; Medic, Jelena; Menelaou, Andron ...; Vajda, Alice; Ticozzi, Nicola; Lin, Kuang; Rogelj, Boris; Vrabec, Katarina; Ravnik-Glavac, M ...; Koritnik, Blazi; Zidar, Janez; Leonardis, Lea; Groselj, Leja Do ...; Millecamps, Step ...; Salachas, Franco ...; Meininger, Vince ...; de Carvalho, Mam ...; Pinto, Susana; Mora, Jesus S.; Rojas-Garcia, Ri ...; Polak, Meraida; Chandran, Siddha ...; Colville, Shuna; Swingler, Robert; Morrison, Karen ...; Shaw, Pamela J.; Hardy, John; Orrell, Richard ...; Pittman, Alan; Sidle, Katie; Fratta, Pietro; Malaspina, Andre ...; Topp, Simon; Petri, Susanne; Abdulla, Susanne; Drepper, Carsten; Sendtner, Michae ...; Meyer, Thomas; Ophoff, Roel A.; Staats, Kim A.; Wiedau-Pazos, Ma ...; Lomen-Hoerth, Ca ...; Van Deerlin, Viv ...; Trojanowski, Joh ...; Elman, Lauren; McCluskey, Leo; Basak, A. Nazli; Tunca, Ceren; Hamzeiy, Hamid; Parman, Yesim; Meitinger, Thoma ...; Lichtner, Peter; Radivojkov-Blago ...; Andres, Christia ...; Maurel, Cindy; Bensimon, Gilber ...; Landwehrmeyer, B ...; Brice, Alexis; Payan, Christine ...; Saker-Delye, Saf ...; Duerr, Alexandra; Wood, Nicholas W ...; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Rietschel, Marce ...; Cichon, Sven; Noethen, Markus ...; Amouyel, Philipp ...; Tzourio, Christo ...; Dartigues, Jean- ...; Uitterlinden, An ...; Rivadeneira, Fer ...; Estrada, Karol; Hofman, Albert; Curtis, Charles; Blauw, Hylke M.; van der Kooi, An ...; de Visser, Maria ...; Goris, An; Weber, Markus; Shaw, Christophe ...; Smith, Bradley N ...; Pansarasa, Oriet ...; Cereda, Cristina; Del Bo, Roberto; Comi, Giacomo P.; D'Alfonso, Sandr ...; Bertolin, Cinzia; Soraru, Gianni; Mazzini, Letizia; Pensato, Viviana; Gellera, Cinzia; Tiloca, Cinzia; Ratti, Antonia; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Arcuti, Simona; Capozzo, Rosa; Zecca, Chiara; Lunetta, Christi ...; Penco, Silvana; Riva, Nilo; Padovani, Alessa ...; Filosto, Massimi ...; Muller, Bernard; Stuit, Robbert J ...; Blair, Ian; Zhang, Katharine; McCann, Emily P.; Fifita, Jennifer ...; Nicholson, Garth ...; Rowe, Dominic B.; Pamphlett, Roger; Kiernan, Matthew ...; Grosskreutz, Jul ...; Witte, Otto W.; Ringer, Thomas; Prell, Tino; Stubendorff, Bea ...; Kurth, Ingo; Huebner, Christi ...; Leigh, P. Nigel; Casale, Federico; Chio, Adrian; Beghi, Ettore; Pupillo, Elisabe ...; Tortelli, Rosann ...; Logroscino, Gian ...; Powell, John; Ludolph, Albert ...; Weishaupt, Joche ...; Robberecht, Wim; Van Damme, Phili ...; Franke, Lude; Pers, Tune H.; Brown, Robert H.; Glass, Jonathan ...; Landers, John E.; Hardiman, Orla; Andersen, Peter ...; Corcia, Philippe; Vourc'h, Patrick; Silani, Vincenzo; Wray, Naomi R.; Visscher, Peter ...; de Bakker, Paul ...; van Es, Michael ...; Pasterkamp, R. J ...; Lewis, Cathryn M ...; Breen, Gerome; Al-Chalabi, Amma ...; van den Berg, Le ...; Veldink, Jan H.; visa färre...

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