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Genotyping of immune-related genetic variants identifies TYK2 as a novel associated locus for idiopathic inflammatory myopathies
  1. M Jani1,
  2. J Massey1,2,
  3. L R Wedderburn3,
  4. J Vencovský4,
  5. K Danko5,
  6. I E Lundberg6,
  7. L Padyukov6,
  8. A Selva-O'Callaghan7,
  9. T Radstake8,
  10. H Platt9,
  11. R B Warren2,
  12. C E Griffiths2,
  13. A Lee10,
  14. P K Gregersen10,
  15. F W Miller11,
  16. W E Ollier9,
  17. R G Cooper12,
  18. H Chinoy1,9,
  19. J A Lamb9,
  20. and EUMYONET
  1. 1 Arthritis Research UK Centre for Epidemiology, Musculoskeletal Research Group, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK
  2. 2 The Dermatology Centre, Salford Royal NHS Foundation Trust, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK
  3. 3 Rheumatology Unit, Institute of Child Health, University College London, London, UK
  4. 4 Institute of Rheumatology, Charles University in Prague, Prague, Czech Republic
  5. 5 University of Debrecen, Debrecen, Hungary
  6. 6 Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Solna, Karolinska Institutet, Stockholm, Sweden
  7. 7 Vall d'Hebron General Hospital, Barcelona, Spain
  8. 8 Laboratory of Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands
  9. 9 Centre for Integrated Genomic Medical Research, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK
  10. 10 Feinstein Institute for Medical Research, Manhasset, New York, USA
  11. 11 National Institute of Environmental Health Sciences, National Institutes of Health, Bethesda, Maryland, USA
  12. 12 Department of Musculoskeletal Biology, University of Liverpool, Liverpool, UK
  1. Correspondence to Dr Meghna Jani, Arthritis Research UK Centre for Epidemiology, Centre for Musculoskeletal Research, Institute of Inflammation and Repair, The University of Manchester, Manchester Academic Health Science Centre, Stopford Building, Oxford Road, Manchester M13 9PT, UK; Meghna.jani{at}

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Idiopathic inflammatory myopathies (IIMs) may present as a primary autoimmune disorder, or overlap with other autoimmune/connective tissue diseases. The aetiology of IIM likely includes interactions between genetic and environmental factors. Several genetic variants common to multiple autoimmune disorders have been identified in recent genome-wide association studies (GWAS). A Myositis Genetics Consortium dermatomyositis (DM) GWAS also suggests genetic overlap with other autoimmune disorders.1 We sought to extend these findings to identify novel genetic risk factors in a large cohort of adult/juvenile patients with DM and polymyositis (PM), by genotyping immune-related single nucleotide polymorphisms (SNPs) not captured through the DM GWAS.1

SNPs significantly associated (p<5×10−8) with 10 autoimmune disorders (systemic lupus erythematosus, rheumatoid arthritis, juvenile idiopathic arthritis, coeliac disease, Crohn's disease, ulcerative colitis, psoriasis, type 1 diabetes, multiple sclerosis and systemic sclerosis) were identified from published GWAS or the National Human Genome Research Institute GWAS catalogue.2 Unique SNPs were identified (n=233), of which 99 had not been directly genotyped or captured (r2≥0.8 with genotyped SNPs) through our DM GWAS.1 These 99 SNPs were genotyped using Sequenom in 1001 European Caucasian individuals with …

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