Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes

Anne Barton, Steve Eyre, Xiayi Ke, Anne Hinks, John Bowes, Edward Flynn, Paul Martin, Anthony G Wilson, Ann W Morgan, Paul Emery, Sophia Steer, Lynne Hocking, David M Reid, Pille Harrison, Paul Wordsworth, Wendy Thomson, Jane Worthington, YEAR Consortium

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The concept of susceptibility genes common to different autoimmune diseases is now firmly established with previous studies demonstrating overlap of loci conferring susceptibility to type 1 diabetes (T1D) with both Coeliac disease and multiple sclerosis. Rheumatoid arthritis (RA) is an archetypal autoimmune disease and we, therefore, targeted putative T1D susceptibility loci for genotyping in UK RA cases and unrelated controls. A novel RA susceptibility locus at AFF3 was identified with convincing evidence for association in a combined sample cohort of 6819 RA cases and 12 650 controls [OR 1.12 95% confidence intervals (CI) 1.07-1.17, P = 2.8 x 10(-7)]. Association of two previously described loci (CTLA-4 and 4q27) with RA was also replicated (OR 0.87, 95% CI 0.82-0.94, P = 1.1 x 10(-4) and OR 0.86, 95% CI 0.79-0.94, P = 5.4 x 10(-4), respectively). These findings take the number of established RA susceptibility loci to 13, only one of which has not been associated with other autoimmune diseases.
Original languageEnglish
Pages (from-to)2518-2522
Number of pages5
JournalHuman Molecular Genetics
Issue number13
Early online date9 Apr 2009
Publication statusPublished - 1 Jul 2009



  • adult
  • aged
  • arthritis, rheumatoid
  • autoimmune diseases
  • case-control studies
  • cohort studies
  • diabetes mellitus, Type 1
  • European continental ancestry group
  • female
  • genetic predisposition to disease
  • genome-wide association study
  • humans
  • male
  • middle aged
  • multigene family
  • nuclear proteins
  • polymorphism, single nucleotide

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