Association study reveals novel risk loci for sporadic inclusion body myositis

作者：Johari M; Arumilli M; Palmio J; Savarese M; Tasca G; Mirabella M; Sandholm N; Lohi H; Hackman P^*; Udd B

来源：European Journal of Neurology, 2017, 24(4): 572-577.

DOI：10.1111/ene.13244

• association study
• case-control study
• genetic risk factors
• HLA
• risk loci
• sphingolipids
• sporadic inclusion body myositis
• whole exome sequencing

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.

• 出版日期2017-4