ArticleArthritis and rheumatism2013
Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders.
Article in Arthritis and rheumatism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 2 of them syntheses that pooled it.
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Who cites it
79 citing papers in PubMed, 2 syntheses or guidelines pooled it, 136 citations in OpenAlex.
- Genetics of idiopathic inflammatory myopathies: insights into disease pathogenesis.Current opinion in rheumatology · 2019Pooled it
- Pooled it
- Early recognition and successful management of dermatomyositis-systemic lupus erythematosus overlap syndrome: case study of a young adult.Annals of medicine and surgery (2012) · 2026Article
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- Review
- Myopathies in clinical care: a focus on treatable causes.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Article
- Biorepositories For Global Rare Disease Research: A Narrative Review.Current rheumatology reports · 2025Review
- Retrospective cohort study of coincident autoimmunity in dermatomyositis.Skin health and disease · 2025Article
- Monozygotic twins discordant for juvenile dermatomyositis: clinical, serological and gene expression studies.Pediatric rheumatology online journal · 2025Article
- Increased Risk of Dermatomyositis in Patients with Psoriasis: A Retrospective Cohort Study.ImmunoTargets and therapy · 2025Article
- Discovery of new myositis genetic associations through leveraging other immune-mediated diseases.HGG advances · 2024Article
- Article
- Advances in Juvenile Dermatomyositis: Pathophysiology, Diagnosis, Treatment and Interstitial Lung Diseases-A Narrative Review.Children (Basel, Switzerland) · 2024Review
- Coordinated immune dysregulation in juvenile dermatomyositis revealed by single-cell genomics.JCI insight · 2024Article
- Amyopathic dermatomyositis may be on the spectrum of autoinflammatory disease: A clinical review.Rheumatology and immunology research · 2024Review
- Complement and MHC patterns can provide the diagnostic framework for inflammatory neuromuscular diseases.Acta neuropathologica · 2024Review
- Identification and validation of interferon-stimulated gene 15 as a biomarker for dermatomyositis by integrated bioinformatics analysis and machine learning.Frontiers in immunology · 2024Article
- Anti-MDA5 antibody-positive dermatomyositis: pathogenesis and clinical progress.Nature reviews. Rheumatology · 2024Review
- Concurrence of dermatomyositis and psoriasis: a case report and literature review.Frontiers in immunology · 2024Review
19 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
24 authors at 13 institutions in 7 countries.
Funding
Abstract
objectiveTo identify new genetic associations with juvenile and adult dermatomyositis (DM).
methodsWe performed a genome-wide association study (GWAS) of adult and juvenile DM patients of European ancestry (n = 1,178) and controls (n = 4,724). To assess genetic overlap with other autoimmune disorders, we examined whether 141 single-nucleotide polymorphisms (SNPs) outside the major histocompatibility complex (MHC) locus, and previously associated with autoimmune diseases, predispose to DM.
resultsCompared to controls, patients with DM had a strong signal in the MHC region consisting of GWAS-level significance (P < 5 × 10(-8)) at 80 genotyped SNPs. An analysis of 141 non-MHC SNPs previously associated with autoimmune diseases showed that 3 SNPs linked with 3 genes were associated with DM, with a false discovery rate (FDR) of <0.05. These genes were phospholipase C-like 1 (PLCL1; rs6738825, FDR = 0.00089), B lymphoid tyrosine kinase (BLK; rs2736340, FDR = 0.0031), and chemokine (C-C motif) ligand 21 (CCL21; rs951005, FDR = 0.0076). None of these genes was previously reported to be associated with DM.
conclusionOur findings confirm the MHC as the major genetic region associated with DM and indicate that DM shares non-MHC genetic features with other autoimmune diseases, suggesting the presence of additional novel risk loci. This first identification of autoimmune disease genetic predispositions shared with DM may lead to enhanced understanding of pathogenesis and novel diagnostic and therapeutic approaches.
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