Association study reveals novel risk loci for sporadic inclusion body myositis

被引：10

作者：

Johari, M. ^{[1
]}

Arumilli, M. ^{[1
,2
,3
]}

Palmio, J. ^{[4
,5
]}

Savarese, M. ^{[1
]}

Tasca, G. ^{[6
]}

Mirabella, M. ^{[7
]}

Sandholm, N. ^{[1
,8
,9
,10
]}

Lohi, H. ^{[1
,2
,3
]}

Hackman, P. ^{[1
]}

Udd, B. ^{[1
,4
,5
,11
]}

机构：

[1] Univ Helsinki, Folkhalsan Inst Genet, Medicum, Helsinki, Finland

[2] Univ Helsinki, Res Programs Unit, Mol Neurol, Helsinki, Finland

[3] Univ Helsinki, Dept Vet Biosci, Helsinki, Finland

[4] Tampere Univ, Neuromuscular Res Ctr, Tampere, Finland

[5] Tampere Univ Hosp, Tampere, Finland

[6] Policlin A Gemelli Fdn Univ Hosp, Inst Neurol, Rome, Italy

[7] Catholic Univ, Inst Neurol, Sch Med, Rome, Italy

[8] Univ Helsinki, Abdominal Ctr Nephrol, Helsinki, Finland

[9] Helsinki Univ Hosp, Helsinki, Finland

[10] Univ Helsinki, Res Program Unit, Diabet & Obes, Helsinki, Finland

[11] Vaasa Cent Hosp, Dept Neurol, Vaasa, Finland

来源：

EUROPEAN JOURNAL OF NEUROLOGY | 2017年 / 24卷 / 04期

关键词：

association study; case-control study; genetic risk factors; HLA; risk loci; sphingolipids; sporadic inclusion body myositis; whole exome sequencing; CLASS-I; DISEASE; PATHOGENESIS; MYOPATHIES; DISORDERS; DIAGNOSIS; REGION;

D O I：

10.1111/ene.13244

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：572 / 577

页数：6

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