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

  title={Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis},
  author={Qiang Gang and Conceiç{\~a}o Bettencourt and P. C. M. Machado and Stefen Brady and J. L. Holton and Alan M. Pittman and Deborah S. Hughes and Estelle G. Healy and Matthew Parton and David Hilton-Jones and Perry B. Shieh and Merrilee Needham and Christina Liang and Edmar Zanoteli and Leonardo Valente de Camargo and Boel De Paepe and Jan L. De Bleecker and Aziz I Shaibani and Michela Ripolone and Raffaella Violano and M. Moggio and Richard J Barohn and Mazen M Dimachkie and Marina Mora and Renato Mantegazza and Simona Zanotti and Andrew Singleton and Michael G. Hanna and Henry Houlden and April L. McVey and Mamatha Pasnoor and Melanie J Glenn and Omar Jawdat and Jeffrey M Statland and Gabrielle Rico and Francis L Mastaglia and Marinos C. Dalakas and Angie Biba and Hector Chinoy and James B Lilleker and Janine Lamb and Hazel Platt and Robert G. Cooper and James A. L. Miller and Mark Roberts and Elizabeth Househam and David Hilton and Aditya Shivane and Amy Bartlett and John T. Kissel and Heidi Runk and Matthew Paul Wicklund and David Scott Saperstein and Lynette R. McKinney},
  booktitle={Neurobiology of Aging},
Genetic factors have been suggested to be involved in the pathogenesis of sporadic inclusion body myositis (sIBM). Sequestosome 1 (SQSTM1) and valosin-containing protein (VCP) are 2 key genes associated with several neurodegenerative disorders but have yet to be thoroughly investigated in sIBM. A candidate gene analysis was conducted using whole-exome sequencing data from 181 sIBM patients, and whole-transcriptome expression analysis was performed in patients with genetic variants of interest… CONTINUE READING