ArticleArthritis & rheumatology (Hoboken, N.J.)2023
Identification of Novel Associations and Localization of Signals in Idiopathic Inflammatory Myopathies Using Genome-Wide Imputation.
Article in Arthritis & rheumatology (Hoboken, N.J.), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Genetic Architecture of Idiopathic Inflammatory Myopathies From Meta-Analyses.Arthritis & rheumatology (Hoboken, N.J.) · 2025Pooled it
- Article
- Review
- Autoimmunity-associated DIORA1 binds the MRCK family of serine/threonine kinases and controls cell motility.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Genetics of myositis - distinct backgrounds of subtypes.Journal of human genetics · 2025Review
- Shared Genes and Pathways in Ulcerative Colitis and Ankylosing Spondylitis: Functional Validation and Implications for Diagnosis.Journal of inflammation research · 2025Article
- Inflammatory Myopathies and Autoimmune Gluten-related Disorders: A Scoping Review of Pathophysiological Interconnections and Hypothesis.Recent advances in inflammation & allergy drug discovery · 2025Article
- Polymyositis in Kooiker dogs is associated with a 39 kb deletion upstream of the canine IL21/IL2 locus.PLoS genetics · 2025Article
- Risk factors and predictive model for pulmonary arterial hypertension in adult idiopathic-inflammatory-myopathy patients: A cross-sectional study.Clinics (Sao Paulo, Brazil) · 2025Article
- Discovery of new myositis genetic associations through leveraging other immune-mediated diseases.HGG advances · 2024Article
- STAT4 gene polymorphisms in human diseases.Frontiers in immunology · 2024Review
Corrections and comments
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Authors and funding
30 authors at 20 institutions in 13 countries.
Funding
Abstract
objectiveThe 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.
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