Identification of Novel Associations and Localization of Signals in Idiopathic Inflammatory Myopathies Using Genome‐Wide Imputation
Authors' conclusion
We found novel and strong associations in IIM and PM and localized signals to single genes and immune cell types.
Study context
- Population
- Caucasian patients with IIM (MYOGEN) and ethnically matched controls; clinical and serologic subgroups1,648,116 variants imputed
- Participants
- 2,565 vs 10,260
- Comparison
- IIM patients vs ethnically matched controls
- IIMn = 2,565
- Controlsn = 10,260reference
- Outcome
- Association of imputed variants with IIM and its clinical and serologic subgroups
Methodological detailsgenome-wide imputation, ImmunoChip array, Haplotype Reference Consortium panel, ethnically matched controls
- Genome-wide imputation
- ImmunoChip array
- Haplotype Reference Consortium panel
- Ethnically matched controls
Main finding
As reported in the abstract
Genome-wide associations in IIM
- HLA locus consistently the most significantly associated region
- Four non-HLA regions reached genome-wide significance: SDK2 and LINC00924 (both novel) and STAT4 in whole IIM cohort, with evidence of independent variants in STAT4; NAB1 in polymyositis (PM) subgroup
Further findings
Suggestive associations with loci of other autoimmune rheumatic diseases
- Suggestive evidence of association with TEC and LTBR
Associations stronger than previously reported in IIM
- STAT4 and DGKQ in total cohort; NAB1 and FAM167A-BLK in PM; CCR5 in IBM
Functional enrichment
- Enrichment of variants among DNase I hypersensitivity sites and histone marks of active transcription within blood cells
Original publication
Identification of Novel Associations and Localization of Signals in Idiopathic Inflammatory Myopathies Using Genome‐Wide Imputation. Arthritis Rheumatol. Published 20 March 2023. doi:10.
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