title: Association study reveals novel risk loci for sporadic inclusion body myositis.
abstract: The aim was to identify potential genetic risk factors associated with sporadic inclusion body myositis (sIBM).
  
  
  
  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.
  
  
  
  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.
  
  
  
  All seven identified variants could individually or in combination increase the susceptibility for sIBM.
authors.affiliation: Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Helsinki, Finland.
authors.forename: M
authors.identifier: 0000-0002-3549-558X
authors.initials: M
authors.lastname: Johari
authors.affiliation: Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Helsinki, Finland.|Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.|Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.
authors.forename: M
authors.initials: M
authors.lastname: Arumilli
authors.affiliation: Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland.
authors.forename: J
authors.initials: J
authors.lastname: Palmio
authors.affiliation: Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Helsinki, Finland.
authors.forename: M
authors.initials: M
authors.lastname: Savarese
authors.affiliation: Institute of Neurology, Policlinico 'A. Gemelli' Foundation University Hospital, Rome, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Tasca
authors.affiliation: Institute of Neurology, Catholic University School of Medicine, Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Mirabella
authors.affiliation: Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Helsinki, Finland.|Abdominal Center Nephrology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.|Research Program Unit, Diabetes and Obesity, University of Helsinki, Helsinki, Finland.
authors.forename: N
authors.initials: N
authors.lastname: Sandholm
authors.affiliation: Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Helsinki, Finland.|Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.|Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.
authors.forename: H
authors.initials: H
authors.lastname: Lohi
authors.affiliation: Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Helsinki, Finland.
authors.forename: P
authors.initials: P
authors.lastname: Hackman
authors.affiliation: Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Helsinki, Finland.|Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland.|Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.
authors.forename: B
authors.initials: B
authors.lastname: Udd
mesh_terms: D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D015331:Cohort Studies; D059472:Exome; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D018979:Myositis, Inclusion Body / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D000073359:Exome Sequencing
keywords: 
  HLA
  ; association study; case−control study; genetic risk factors; risk loci; sphingolipids; sporadic inclusion body myositis; whole exome sequencing