Journal Article

Identification of AF4/FMR2 family, member 3 (<i>AFF3</i>) 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 J. Hocking, David M. Reid, Pille Harrison, Paul Wordsworth, Wendy Thomson and Jane Worthington

in Human Molecular Genetics

Volume 18, issue 13, pages 2518-2522
Published in print July 2009 | ISSN: 0964-6906
Published online April 2009 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddp177
Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes

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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 × 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 × 10−4 and OR 0.86, 95% CI 0.79–0.94, P = 5.4 × 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.

Journal Article.  3116 words.  Illustrated.

Subjects: Genetics and Genomics

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