Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis

Anne Hinks, Joanna Cobb, Miranda C. Marion, Sampath Prahalad, Marc Sudman, John Bowes, Paul Martin, Mary E. Comeau, Satria Sajuthi, Robert Andrews, Milton Brown, Wei Min Chen, Patrick Concannon, Panos Deloukas, Sarah Edkins, Stephen Eyre, Patrick M. Gaffney, Stephen L. Guthery, Joel M. Guthridge, Sarah E. HuntJudith A. James, Mehdi Keddache, Kathy L. Moser, Peter A. Nigrovic, Suna Onengut-Gumuscu, Mitchell L. Onslow, Carlos D. Rosé, Stephen S. Rich, Kathryn J A Steel, Edward K. Wakeland, Carol A. Wallace, Lucy R. Wedderburn, Patricia Woo, John F. Bohnsack, Johannes Peter Haas, David N. Glass, Carl D. Langefeld, Wendy Thomson, Susan D. Thompson

Research output: Contribution to journalArticlepeer-review

268 Scopus citations


We used the Immunochip array to analyze 2,816 individuals with juvenile idiopathic arthritis (JIA), comprising the most common subtypes (oligoarticular and rheumatoid factor-negative polyarticular JIA), and 13,056 controls. We confirmed association of 3 known JIA risk loci (the human leukocyte antigen (HLA) region, PTPN22 and PTPN2) and identified 14 loci reaching genome-wide significance (P < 5 × 10-8) for the first time. Eleven additional new regions showed suggestive evidence of association with JIA (P < 1 × 10-6). Dense mapping of loci along with bioinformatics analysis refined the associations to one gene in each of eight regions, highlighting crucial pathways, including the interleukin (IL)-2 pathway, in JIA disease pathogenesis. The entire Immunochip content, the HLA region and the top 27 loci (P < 1 × 10-6) explain an estimated 18, 13 and 6% of the risk of JIA, respectively. In summary, this is the largest collection of JIA cases investigated so far and provides new insight into the genetic basis of this childhood autoimmune disease.

Original languageEnglish (US)
Pages (from-to)664-669
Number of pages6
JournalNature genetics
Issue number6
StatePublished - Jun 2013

ASJC Scopus subject areas

  • Genetics


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