Association study reveals novel risk loci for sporadic inclusion body myositis

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

doi:10.1111/ene.13244

Association study reveals novel risk loci for sporadic inclusion body myositis

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

Risultato della ricerca: Contributo in rivista › Articolo in rivista › 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	English
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

Accesso al documento

10.1111/ene.13244

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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{\^a}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.",

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

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TY - JOUR

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

AU - Mirabella, Massimiliano

AU - Tasca, Giorgio

AU - Johari, M.

AU - Arumilli, M.

AU - Palmio, J.

AU - Savarese, M.

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.

KW - Aged

KW - Alleles

KW - Case-Control Studies

KW - Cohort Studies

KW - Exome

KW - Female

KW - Gene Frequency

KW - Genetic Association Studies

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KW - Genetic Predisposition to Disease

KW - HLA

KW - Humans

KW - Male

KW - Middle Aged

KW - Myositis, Inclusion Body

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KW - Polymorphism, Single Nucleotide

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KW - Cohort Studies

KW - Exome

KW - Female

KW - Gene Frequency

KW - Genetic Association Studies

KW - Genetic Loci

KW - Genetic Predisposition to Disease

KW - HLA

KW - Humans

KW - Male

KW - Middle Aged

KW - Myositis, Inclusion Body

KW - Neurology

KW - Neurology (clinical)

KW - Polymorphism, Single Nucleotide

KW - Risk

KW - Whole Exome Sequencing

KW - association study

KW - caseâcontrol study

KW - genetic risk factors

KW - risk loci

KW - sphingolipids

KW - sporadic inclusion body myositis

KW - whole exome sequencing

UR - http://hdl.handle.net/10807/113516

UR - http://www.wiley.com/bw/journal.asp?ref=1351-5101&site=1

U2 - 10.1111/ene.13244

DO - 10.1111/ene.13244

M3 - Article

VL - 24

SP - 572

EP - 577

JO - EUROPEAN JOURNAL OF NEUROLOGY

JF - EUROPEAN JOURNAL OF NEUROLOGY

SN - 1351-5101

ER -