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- Title
Association study reveals novel risk loci for sporadic inclusion body myositis.
- Authors
Johari, M.; Arumilli, M.; Palmio, J.; Savarese, M.; Tasca, G.; Mirabella, M.; Sandholm, N.; Lohi, H.; Hackman, P.; Udd, B.
- 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.
- Subjects
MYOSITIS; MUSCLE diseases; NONARTICULAR rheumatism; HLA histocompatibility antigens; SINGLE nucleotide polymorphisms
- Publication
European Journal of Neurology, 2017, Vol 24, Issue 4, p572
- ISSN
1351-5101
- Publication type
Article
- DOI
10.1111/ene.13244