Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

"Disclosure statement Declaration of interests: All authors have no competing financial interests. Authors' contributions: Qiang Gang contributed to sample collection, all the experimental work, data analysis, and drafting the first version of the manuscript; Conceição Bettencourt contributed to the experimental plans of microarray and RT-qPCR, preliminary analysis of microarray data, and statistical plan; Pedro M. Machado contributed to overall coordination of the study, namely worldwide sample collection and liaising with all the study collaborators; Conceição Bettencourt, Pedro M. Machado, and Henry Houlden also contributed to drafting the first version of the manuscript; Janice L. Holton contributed to the review and photography of the muscle biopsies; Alan M. Pittman and Deborah Hughes contributed to the generation of whole-exome sequencing data; Stefen Brady, Janice L. Holton, and Boel De Paepe contributed to immunotyping of muscle biopsies; and Andrew B. Singleton contributed to the exome data from control individuals. All the authors from International IBM Genetic Consortium and Muscle Study Group contributed to acquisition of clinical data and sample collection. Michael G. Hanna, Henry Houlden, and Pedro M. Machado are principal investigators of the International IBM Consortium Genetics Study. All the authors contributed to the critical revision of the manuscript and approved the final version."

"Qiang Gang is supported by a University College London (UCL) Impact Studentship and a scholarship from the Chinese Scholarship Council. Conceição Bettencourt is supported by the Wellcome Trust. Pedro M. Machado is supported by the National Institute for Health Research (NIHR) Rare Diseases Translational Research Collaboration and by the NIHR University College London Hospitals (UCLH) Biomedical Research Centre (BRC). Michael G. Hanna is supported by an MRC Centre grant 2013–2018 (MR/K000608/01). The International IBM Consortium Genetic Study is also supported by an MRC grant (MR/J004758/1). We thank all the study collaborators from UK, USA, Australia, Europe, and Brazil and especially thank all the patients and their families for participating in our study. This publication was supported by researchers at the UCL/UCLH NIHR BRC. We wish to acknowledge the National Institute of Health, USA, for providing the neuropathologically healthy control exomes. We also wish to acknowledge the Queen Square Brain Bank in London and the MRC Sudden Death Brain and Tissue Bank in Edinburgh, UK, which provided us the control tissues. We also wish to acknowledge colleagues from the UCL Department of Pathology and Boel De Paepe for providing the muscle biopsy slides. We also wish to acknowledge “The BioBank of Skeletal Muscle, Nerve Tissue, DNA and Cell Lines” and “The Biobank Cells, Tissue and DNA from Patients with Neuromuscular Diseases” that provided us with case specimens. Both are members of the Telethon Network of Genetic Biobanks (grant number GTB12001), funded by Telethon Italy and the EuroBioBank network. We also acknowledge all the participants of the International IBM Genetics Consortium and the Muscle Study Group, who have endorsed this project—Michael G. Hanna, Henry Houlden, Pedro M. Machado, Qiang Gang, Conceicao Bettencourt, Estelle Healy, Matthew Parton, and Janice L. Holton: Department of Molecular Neuroscience and MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK; Stefen Brady and David Hilton-Jones: Nuffield Department of Clinical Neurosciences, University of Oxford, UK; Perry B. Shieh: Neuromuscular Division, Department of Neurology, UCLA Medical Centre, USA; Edmar Zanoteli and Leonardo Valente de Camargo: Department of Neurology, Medical School of the University of São Paulo (FMUSP), São Paulo, Brazil; Boel De Paepe and Jan De Bleecker: Ghent University Hospital, Department of Neurology and Neuromuscular Reference Centre, Ghent, Belgium; Aziz Shaibani: Nerve and Muscle Centre of Texas, Houston, TX, USA; Michela Ripolone, Raffaella Violano, and Maurizio Moggio: Neuromuscular Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, University of Milan, Milan, Italy; Richard J. Barohn, Mazen M. Dimachkie, April L. McVey, Mamatha Pasnoor, Melanie Glenn, Omar Jawdat, Jeffrey Statland, and Gabrielle Rico: The University of Kansas Medical Centre, Kansas City, USA; Marina Mora, Renato Mantegazza, and Simona Zanotti: Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Isitituto Neurologico C. Besta, Milano, Italy; Merrilee Needham and Frank Mastaglia: Western Australian Neurosciences Research Institute, University of Western Australia and Murdoch University, Fiona Stanley Hospital, Perth, Australia; Christina Liang: Royal North Shore Hospital, New South Wales, Australia; Marinos C. Dalakas and Angie Biba: Neuroimmunology Unit, Department of Pathophysiology, National University of Athens Medical School, Athens, Greece; Hector Chinoy and James B. Lilleker: Centre for Musculoskeletal Research, Institute of Inflammation and Repair, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Janine Lamb and Hazel Platt: Centre for Integrated Genomic Medical Research, Institute of Population Health, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Robert G. Cooper: MRC/ARUK Institute for Ageing and Chronic Disease, University of Liverpool, Liverpool, UK; James A.L. Miller: Department of Neurology, Newcastle Upon Tyne Hospitals NHS Trust, UK; Mark Roberts: Salford Royal NHS Foundation Trust, UK; Elizabeth Househam, David Hilton, and Aditya Shivane: Derriford Hospital, Plymouth, UK; Amy Bartlett and John T. Kissel: The Ohio State University Wexner Medical Center, USA; Heidi Runk and Matthew Wicklund: Penn State Milton S. Hershey Medical Center, USA; and David S. Saperstein and Lynette R. McKinney: Phoenix Neurological Associates, USA."