NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Kevin P Kenna,Perry T C van Doormaal,Annelot M Dekker,Nicola Ticozzi,Brendan J Kenna,Frank P Diekstra,Wouter van Rheenen,Kristel R van Eijk,Ashley R Jones,Pamela Keagle,Aleksey Shatunov,William Sproviero,Bradley N Smith,Michael A van Es,Simon D Topp, Aoife Kenna,Jack W Miller,Claudia Fallini,Cinzia Tiloca,Russell L McLaughlin,Caroline Vance,Claire Troakes,Claudia Colombrita,Gabriele Mora,Andrea Calvo,Federico Verde,Safa Al-Sarraj,Andrew King,Daniela Calini,Jacqueline de Belleroche,Frank Baas,Anneke J van der Kooi,Marianne de Visser,Anneloor L M A ten Asbroek,Peter C Sapp, Diane McKenna-Yasek,Meraida Polak,Seneshaw Asress,José Luis Muñoz-Blanco,Tim M Strom,Thomas Meitinger,Karen E Morrison,Sandra D'Alfonso,Giuseppe Lauria,Kelly L Williams,P Nigel Leigh,Garth A Nicholson,Ian P Blair,Claire S Leblond,Patrick A Dion,Guy A Rouleau,Hardev Pall,Pamela J Shaw,Martin R Turner,Kevin Talbot,Franco Taroni,Kevin B Boylan,Marka Van Blitterswijk,Rosa Rademakers,Jesús Esteban-Pérez,Alberto García-Redondo,Phillip Van Damme,Wim Robberecht,Adriano Chio,Cinzia Gellera,Carsten Drepper,Michael Sendtner,Antonia Ratti,Jonathan D Glass,Jesús S Mora,Nazli A Basak,Orla Hardiman,Albert C Ludolph,Peter M Andersen,Jochen H Weishaupt,Robert H Brown Jr,Ammar Al-Chalabi,Vincenzo Silani,Christopher E Shaw,Leonard H van den Berg,Jan H Veldink,John E Landers

Nature Genetics（2016）

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摘要

Jan Veldink and colleagues show that loss-of-function variants in NEK1 are associated with susceptibility to amyotrophic lateral sclerosis (ALS). In addition to finding an excess of rare loss-of-function NEK1 variants in ALS cases, they report a significant association between a specific NEK1 missense variant (p.Arg261His) and disease risk.

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Genomics,Motor neuron disease,Biomedicine,general,Human Genetics,Cancer Research,Agriculture,Gene Function,Animal Genetics and Genomics

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