Identification of Novel Associations and Localization of Signals in Idiopathic Inflammatory Myopathies Using Genome-Wide Imputation
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023728%3A_____%2F23%3AN0000038" target="_blank" >RIV/00023728:_____/23:N0000038 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/23:10464338
Result on the web
<a href="https://doi.org/10.1002/art.42434" target="_blank" >https://doi.org/10.1002/art.42434</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/art.42434" target="_blank" >10.1002/art.42434</a>
Alternative languages
Result language
angličtina
Original language name
Identification of Novel Associations and Localization of Signals in Idiopathic Inflammatory Myopathies Using Genome-Wide Imputation
Original language description
The idiopathic inflammatory myopathies (IIMs) are heterogeneous diseases thought to be initiated by immune activation in genetically predisposed individuals. We imputed variants from the ImmunoChip array using a large reference panel to fine-map associations and identify novel associations in IIM. MethodsWe analyzed 2,565 Caucasian IIM patient samples collected through the Myositis Genetics Consortium (MYOGEN) and 10,260 ethnically matched control samples. We imputed 1,648,116 variants from the ImmunoChip array using the Haplotype Reference Consortium panel and conducted association analysis on IIM and clinical and serologic subgroups. ResultsThe HLA locus was consistently the most significantly associated region. Four non-HLA regions reached genome-wide significance, SDK2 and LINC00924 (both novel) and STAT4 in the whole IIM cohort, with evidence of independent variants in STAT4, and NAB1 in the polymyositis (PM) subgroup. We also found suggestive evidence of association with loci previously associated with other autoimmune rheumatic diseases (TEC and LTBR). We identified more significant associations than those previously reported in IIM for STAT4 and DGKQ in the total cohort, for NAB1 and FAM167A-BLK loci in PM, and for CCR5 in inclusion body myositis. We found enrichment of variants among DNase I hypersensitivity sites and histone marks associated with active transcription within blood cells. ConclusionWe found novel and strong associations in IIM and PM and localized signals to single genes and immune cell types.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30226 - Rheumatology
Result continuities
Project
—
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Arthritis Rheumatology
ISSN
2326-5191
e-ISSN
2326-5205
Volume of the periodical
75
Issue of the periodical within the volume
6
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
1021-1027
UT code for WoS article
000951145400001
EID of the result in the Scopus database
2-s2.0-85151071966