Association study reveals novel risk loci for sporadic inclusion body myositis. (24th February 2017)

• Record Type: Journal Article
• Authors: Johari, M.; Arumilli, M.; Palmio, J.; Savarese, M.; Tasca, G.; Mirabella, M.; Sandholm, N.; Lohi, H.; Hackman, P.; Udd, B.
• Is Part Of: European journal of neurology. Volume 24:Number 4(2017:Apr.)
• Page Start: 572
• Page End: 577
• Publication Date: 2017-02-24
• Subjects: association study -- case−control study -- genetic risk factors -- HLA -- risk loci -- sphingolipids -- sporadic inclusion body myositis -- whole exome sequencing; Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; 616.8
• DOI: 10.1111/ene.13244
• Languages: English
• ISSNs: 1351-5101

Abstract

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.