Association study reveals novel risk loci for sporadic inclusion body myositis

M. Johari; M. Arumilli; J. Palmio; M. Savarese; Giorgio Tasca; Massimiliano Mirabella; N. Sandholm; H. Lohi; P. Hackman; B. Udd

doi:10.1111/ene.13244

Association study reveals novel risk loci for sporadic inclusion body myositis

M. Johari
, M. Arumilli
, J. Palmio
, M. Savarese
, Giorgio Tasca
, Massimiliano Mirabella
, N. Sandholm
, H. Lohi
, P. Hackman
, B. Udd

University of Helsinki
Tampere University

Risultato della ricerca: Contributo in rivista › Articolo › peer review

5 Citazioni (Scopus)

Abstract

Background and purpose: The aim was to identify potential genetic risk factors associated with sporadic inclusion body myositis (sIBM). Methods: An association based caseâcontrol 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.

Lingua originale	Inglese
pagine (da-a)	572-577
Numero di pagine	6
Rivista	European Journal of Neurology
Volume	24
DOI	https://doi.org/10.1111/ene.13244
Stato di pubblicazione	Pubblicato - 2017

Keywords

Aged
Alleles
Case-Control Studies
Cohort Studies
Exome
Female
Gene Frequency
Genetic Association Studies
Genetic Loci
Genetic Predisposition to Disease
HLA
Humans
Male
Middle Aged
Myositis, Inclusion Body
Neurology
Neurology (clinical)
Polymorphism, Single Nucleotide
Risk
Whole Exome Sequencing
association study
caseâcontrol study
genetic risk factors
risk loci
sphingolipids
sporadic inclusion body myositis
whole exome sequencing

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10.1111/ene.13244

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T1 - Association study reveals novel risk loci for sporadic inclusion body myositis

AU - Johari, M.

AU - Arumilli, M.

AU - Palmio, J.

AU - Savarese, M.

AU - Tasca, Giorgio

AU - Mirabella, Massimiliano

AU - Sandholm, N.

AU - Lohi, H.

AU - Hackman, P.

AU - Udd, B.

PY - 2017

Y1 - 2017

N2 - Background and purpose: The aim was to identify potential genetic risk factors associated with sporadic inclusion body myositis (sIBM). Methods: An association based caseâcontrol 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.

AB - Background and purpose: The aim was to identify potential genetic risk factors associated with sporadic inclusion body myositis (sIBM). Methods: An association based caseâcontrol 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.

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JO - European Journal of Neurology

JF - European Journal of Neurology

ER -

Association study reveals novel risk loci for sporadic inclusion body myositis

Abstract

Keywords

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