作者
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 Hunt, Judith A James, Mehdi Keddache, Kathy L Moser, Peter A Nigrovic, Suna Onengut-Gumuscu, Mitchell L Onslow, Carlos D Rosé, Stephen S Rich, Kathryn JA Steel, Edward K Wakeland, Carol A Wallace, Lucy R Wedderburn, Patricia Woo, Boston Children's JIA Registry, British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group, Childhood Arthritis Prospective Study (CAPS), Childhood Arthritis Response to Medication Study (CHARMS), German Society for Pediatric Rheumatology (GKJR), JIA Gene Expression Study, NIAMS JIA Genetic Registry, TREAT Study, United Kingdom Juvenile Idiopathic Arthritis Genetics Consortium (UKJIAGC), John F Bohnsack, Johannes Peter Haas, David N Glass, Carl D Langefeld, Wendy Thomson, Susan D Thompson
发表日期
2013/6
期刊
Nature genetics
卷号
45
期号
6
页码范围
664-669
出版商
Nature Publishing Group US
简介
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 …
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A Hinks, J Cobb, MC Marion, S Prahalad, M Sudman… - Nature genetics, 2013