Association study reveals novel risk loci for sporadic inclusion body myositis

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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.

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