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Association study reveals novel risk loci for sporadic inclusion body myositis

Lookup NU author(s): Professor Giorgio TascaORCiD


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© 2017 EANBackground 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.

Publication metadata

Author(s): Johari M, Arumilli M, Palmio J, Savarese M, Tasca G, Mirabella M, Sandholm N, Lohi H, Hackman P, Udd B

Publication type: Article

Publication status: Published

Journal: European Journal of Neurology

Year: 2017

Volume: 24

Issue: 4

Pages: 572-577

Print publication date: 01/04/2017

Online publication date: 24/02/2017

Acceptance date: 04/01/2017

ISSN (print): 1351-5101

ISSN (electronic): 1468-1331

Publisher: Blackwell Publishing Ltd


DOI: 10.1111/ene.13244

PubMed id: 28233382


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