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.