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

Wouter van Rheenen,Aleksey Shatunov,Annelot M Dekker,Russell L McLaughlin,Frank P Diekstra,Sara L Pulit,Rick A A van der Spek,Urmo Võsa,Simone de Jong,Matthew R Robinson,Jian Yang,Isabella Fogh,Perry TC van Doormaal,Gijs H P Tazelaar,Max Koppers,Anna M Blokhuis,William Sproviero,Ashley R Jones,Kevin P Kenna,Kristel R van Eijk,Oliver Harschnitz,Raymond D Schellevis,William J Brands,Jelena Medic,Androniki Menelaou,Alice Vajda,Nicola Ticozzi,Kuang Lin,Boris Rogelj,Katarina Vrabec,Metka Ravnik-Glavač,Blaž Koritnik,Janez Zidar,Lea Leonardis,Leja Dolenc Grošelj,Stéphanie Millecamps,François Salachas,Vincent Meininger,Mamede de Carvalho,Susana Pinto,Jesus S Mora,Ricardo Rojas-García,Meraida Polak,Siddharthan Chandran,Shuna Colville,Robert Swingler,Karen E Morrison,Pamela J Shaw,John Hardy,Richard W Orrell,Alan Pittman,Katie Sidle,Pietro Fratta,Andrea Malaspina,Simon Topp,Susanne Petri,Susanne Abdulla,Carsten Drepper,Michael Sendtner,Thomas Meyer,Roel A Ophoff,Kim A Staats,Martina Wiedau-Pazos,Catherine Lomen-Hoerth,Vivianna M Van Deerlin,John Q Trojanowski,Lauren Elman,Leo McCluskey,A Nazli Basak,Ceren Tunca,Hamid Hamzeiy,Yesim Parman,Thomas Meitinger,Peter Lichtner,Milena Radivojkov-Blagojevic,Christian R Andres,Cindy Maurel,Gilbert Bensimon,Bernhard Landwehrmeyer,Alexis Brice,Christine A M Payan, Safaa Saker-Delye,Alexandra Dürr,Nicholas W Wood,Lukas Tittmann,Wolfgang Lieb,Andre Franke,Marcella Rietschel,Sven Cichon,Markus M Nöthen,Philippe Amouyel,Christophe Tzourio,Jean-François Dartigues,Andre G Uitterlinden,Fernando Rivadeneira,Karol Estrada,Albert Hofman,Charles Curtis,Hylke M Blauw,Anneke J van der Kooi,Marianne de Visser,An Goris,Markus Weber,Christopher E Shaw,Bradley N Smith,Orietta Pansarasa,Cristina Cereda,Roberto Del Bo,Giacomo P Comi,Sandra D'Alfonso,Cinzia Bertolin,Gianni Sorarù,Letizia Mazzini,Viviana Pensato,Cinzia Gellera,Cinzia Tiloca,Antonia Ratti,Andrea Calvo,Cristina Moglia,Maura Brunetti,Simona Arcuti,Rosa Capozzo,Chiara Zecca,Christian Lunetta,Silvana Penco,Nilo Riva,Alessandro Padovani,Massimiliano Filosto,Bernard Muller, Robbert Jan Stuit,Ian Blair,Katharine Zhang,Emily P McCann,Jennifer A Fifita,Garth A Nicholson,Dominic B Rowe,Roger Pamphlett,Matthew C Kiernan,Julian Grosskreutz,Otto W Witte,Thomas Ringer,Tino Prell,Beatrice Stubendorff,Ingo Kurth,Christian A Hübner,P Nigel Leigh,Federico Casale,Adriano Chio,Ettore Beghi,Elisabetta Pupillo,Rosanna Tortelli,Giancarlo Logroscino,John Powell,Albert C Ludolph,Jochen H Weishaupt,Wim Robberecht,Philip Van Damme,Lude Franke,Tune H Pers,Robert H Brown,Jonathan D Glass,John E Landers,Orla Hardiman,Peter M Andersen,Philippe Corcia,Patrick Vourc'h,Vincenzo Silani,Naomi R Wray,Peter M Visscher,Paul I W de Bakker,Michael A van Es,R Jeroen Pasterkamp,Cathryn M Lewis,Gerome Breen,Ammar Al-Chalabi,Leonard H van den Berg,Jan H Veldink

NATURE GENETICS（2016）

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摘要

mmar Al-Chalabi, Jan Veldink and colleagues perform a genome-wide association study for amyotrophic lateral sclerosis (ALS) in 15,156 cases and 26,242 controls. They identify three new genome-wide-significant variants and establish ALS as a complex trait with a polygenic architecture, but with a distinct and important role for low-frequency variants.

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关键词

Motor neuron disease,Genome-wide association studies,Motor neuron disease

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