Association study reveals novel risk loci for sporadic inclusion body myositis

Massimiliano Mirabella, Giorgio Tasca, M. Johari, M. Arumilli, J. Palmio, M. Savarese, N. Sandholm, H. Lohi, P. Hackman, B. Udd

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

5 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)572-577
Numero di pagine6
RivistaEUROPEAN JOURNAL OF NEUROLOGY
Volume24
DOI
Stato di pubblicazionePubblicato - 2017

Keywords

  • Aged
  • Alleles
  • Case-Control Studies
  • Cohort Studies
  • Exome
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Loci
  • Genetic Predisposition to Disease
  • HLA
  • Humans
  • Male
  • Middle Aged
  • Myositis, Inclusion Body
  • Neurology
  • Neurology (clinical)
  • Polymorphism, Single Nucleotide
  • Risk
  • Whole Exome Sequencing
  • association study
  • case−control study
  • genetic risk factors
  • risk loci
  • sphingolipids
  • sporadic inclusion body myositis
  • whole exome sequencing

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