M Johari1, M Arumilli1,2,3, J Palmio4, M Savarese1, G Tasca5, M Mirabella6, N Sandholm1,7,8, H Lohi1,2,3, P Hackman1, B Udd1,4,9. 1. Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Helsinki, Finland. 2. Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland. 3. Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland. 4. Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland. 5. Institute of Neurology, Policlinico 'A. Gemelli' Foundation University Hospital, Rome, Italy. 6. Institute of Neurology, Catholic University School of Medicine, Rome, Italy. 7. Abdominal Center Nephrology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. 8. Research Program Unit, Diabetes and Obesity, University of Helsinki, Helsinki, Finland. 9. Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.
Abstract
BACKGROUND AND PURPOSE: The aim was to identify potential genetic risk factors associated with sporadic inclusion body myositis (sIBM). METHODS: An association based case-control approach was utilized on whole exome sequencing data of 30 Finnish sIBM patients and a control cohort (n = 193). A separate Italian cohort of sIBM patients (n = 12) was used for evaluation of the results. RESULTS: Seven single nucleotide polymorphisms were identified in five genes that have a considerably higher observed frequency in Finnish sIBM patients compared to the control population, and the previous association of the genetic human leukocyte antigen region was confirmed. CONCLUSIONS: All seven identified variants could individually or in combination increase the susceptibility for sIBM.
BACKGROUND AND PURPOSE: The aim was to identify potential genetic risk factors associated with sporadic inclusion body myositis (sIBM). METHODS: An association based case-control approach was utilized on whole exome sequencing data of 30 Finnish sIBM patients and a control cohort (n = 193). A separate Italian cohort of sIBM patients (n = 12) was used for evaluation of the results. RESULTS: Seven single nucleotide polymorphisms were identified in five genes that have a considerably higher observed frequency in Finnish sIBM patients compared to the control population, and the previous association of the genetic human leukocyte antigen region was confirmed. CONCLUSIONS: All seven identified variants could individually or in combination increase the susceptibility for sIBM.
Authors: Mridul Johari; Anna Vihola; Johanna Palmio; Manu Jokela; Per Harald Jonson; Jaakko Sarparanta; Sanna Huovinen; Marco Savarese; Peter Hackman; Bjarne Udd Journal: J Neurol Date: 2022-03-02 Impact factor: 6.682
Authors: Chiseko Ikenaga; Hidetoshi Date; Motoi Kanagawa; Jun Mitsui; Hiroyuki Ishiura; Jun Yoshimura; Iago Pinal-Fernandez; Andrew L Mammen; Thomas E Lloyd; Shoji Tsuji; Jun Shimizu; Tatsushi Toda; Jun Goto Journal: Ann Neurol Date: 2022-02-11 Impact factor: 11.274