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Confirmation of association of the REL locus with rheumatoid arthritis susceptibility in the UK population
  1. Stephen Eyre1,
  2. Anne Hinks1,
  3. Edward Flynn1,
  4. Paul Martin1,
  5. Anthony G Wilson2,
  6. James R Maxwell2,
  7. Ann W Morgan3,
  8. Paul Emery3,
  9. Sophia Steer4,
  10. Lynne J Hocking5,
  11. David M Reid5,
  12. Pille Harrison6,
  13. Paul Wordsworth6,
  14. Wendy Thomson1,
  15. Jane Worthington1,
  16. Anne Barton1
  1. 1arc-Epidemiology Unit, Manchester Academy of Health Sciences, The University of Manchester, Manchester, UK
  2. 2School of Medicine and Biomedical Sciences, Sheffield University, Sheffield, UK
  3. 3NIHR-Leeds Musculoskeletal Biomedical Research Unit, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK
  4. 4Clinical and Academic Rheumatology Department, Kings College Hospital NHS Foundation Trust, London, UK
  5. 5Musculoskeletal and Genetics Section, Division of Applied Medicine, University of Aberdeen, Aberdeen, UK
  6. 6University of Oxford Institute of Musculoskeletal Sciences, Botnar Research Centre, Oxford, UK
  1. Correspondence to Dr Anne Barton, arc-Epidemiology Unit, Stopford Building, Manchester Academy of Health Sciences, The University of Manchester, Oxford Road, Manchester M13 9PT, UK; anne.barton{at}

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Genome-wide association studies (GWAS) have contributed to the identification of at least 14 rheumatoid arthritis (RA) susceptibility loci.1 One of the first RA GWAS included 1522 cases and 1850 controls from the USA/Sweden and identified TRAF1/C5 as a novel RA locus.2 This GWAS was recently repeated after including an additional 1550 cases and 3310 controls from the USA and restricting analysis to US subjects.3 In the expanded sample, two novel single nucleotide polymorphisms (SNP) mapping to the REL locus showed association with RA. REL encodes c-Rel, a member of the nuclear factor kappa B family of transcription factors and one of the associated SNP (rs13031237) maps to an intron of this gene. The association was validated in an independent sample of 2604 RA cases and 2882 controls from the USA/Canada, with strong evidence for association in the combined samples (rs13031237, p=3.1×10−14). We aimed to test the …

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