Association of NLRP3 and CARD8 genetic polymorphisms with juvenile idiopathic arthritis in a Taiwanese population

References

• Fernandez-Vina M, Fink CW, Stastny P. HLA associations in juvenile arthritis. Clin Exp Rheumatol 1994;12:205–14.
   PubMed Web of Science ®Google Scholar
• Thomson W, Barrett JH, Donn R, Pepper L, Kennedy LJ, Ollier WE, Juvenile idiopathic arthritis classified by the ILAR criteria: HLA associations in UK patients. Rheumatology (Oxford) 2002;41:1183–9.
   PubMed Web of Science ®Google Scholar
• Hinks A, Ke X, Barton A, Eyre S, Bowes J, Worthington J, Association of the IL2RA/CD25 gene with juvenile idiopathic arthritis. Arthritis Rheum 2009;60:251–7.
   PubMed Web of Science ®Google Scholar
• Viken MK, Amundsen SS, Kvien TK, Boberg KM, Gilboe IM, Lilleby V, Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases. Genes Immun 2005;6:271–3.
   PubMed Web of Science ®Google Scholar
• Schmeling H, Wagner U, Peterson A, Horneff G. Tumor necrosis factor alpha promoter polymorphisms in patients with juvenile idiopathic arthritis. Clin Exp Rheumatol 2006;24:103–8.
   PubMed Web of Science ®Google Scholar
• Donn R, Alourfi Z, Zeggini E, Lamb R, Jury F, Lunt M, A functional promoter haplotype of macrophage migration inhibitory factor is linked and associated with juvenile idiopathic arthritis. Arthritis Rheum 2004;50:1604–10.
   PubMed Web of Science ®Google Scholar
• Macaubas C, Nguyen K, Milojevic D, Park JL, Mellins ED. Oligoarticular and polyarticular JIA: epidemiology and pathogenesis. Nat Rev Rheumatol 2009;5:616–26.
   PubMed Web of Science ®Google Scholar
• de Jager W, Hoppenreijs EP, Wulffraat NM, Wedderburn LR, Kuis W, Prakken BJ. Blood and synovial fluid cytokine signatures in patients with juvenile idiopathic arthritis: a cross-sectional study. Ann Rheum Dis 2007;66:589–98.
   PubMed Web of Science ®Google Scholar
• Pascual V, Allantaz F, Arce E, Punaro M, Banchereau J. Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade. J Exp Med 2005;201:1479–86.
   PubMed Web of Science ®Google Scholar
• Quartier P, Allantaz F, Cimaz R, Pillet P, Messiaen C, Bardin C, A multicentre, randomised, double-blind, placebo-controlled trial with the interleukin-1 receptor antagonist anakinra in patients with systemic-onset juvenile idiopathic arthritis (ANAJIS trial). Ann Rheum Dis 2011;70:747–54.
   PubMed Web of Science ®Google Scholar
• Ruperto N, Quartier P, Wulffraat N, Woo P, Ravelli A, Mouy R, A phase II, multicenter, open-label study evaluating dosing and preliminary safety and efficacy of canakinumab in systemic juvenile idiopathic arthritis with active systemic features. Arthritis Rheum 2012;64:557–67.
   PubMed Web of Science ®Google Scholar
• McDowell TL, Symons JA, Ploski R, Forre O, Duff GW. A genetic association between juvenile rheumatoid arthritis and a novel interleukin-1 alpha polymorphism. Arthritis Rheum 1995;38:221–8.
   PubMed Web of Science ®Google Scholar
• Fishman D, Faulds G, Jeffery R, Mohamed-Ali V, Yudkin JS, Humphries S, The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis. J Clin Invest 1998;102:1369–76.
   PubMed Web of Science ®Google Scholar
• Sugiura T, Maeno N, Kawaguchi Y, Takei S, Imanaka H, Kawano Y, A promoter haplotype of the interleukin-18 gene is associated with juvenile idiopathic arthritis in the Japanese population. Arthritis Res Ther 2006;8:R60.
   PubMed Web of Science ®Google Scholar
• Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 2004;20:319–25.
   PubMed Web of Science ®Google Scholar
• Martinon F, Tschopp J. Inflammatory caspases: linking an intracellular innate immune system to autoinflammatory diseases. Cell 2004;117:561–74.
   PubMed Web of Science ®Google Scholar
• Villani AC, Lemire M, Fortin G, Louis E, Silverberg MS, Collette C, Common variants in the NLRP3 region contribute to Crohn’s disease susceptibility. Nat Genet 2009;41:71–6.
   PubMed Web of Science ®Google Scholar
• Kastbom A, Verma D, Eriksson P, Skogh T, Wingren G, Soderkvist P. Genetic variation in proteins of the cryopyrin inflammasome influences susceptibility and severity of rheumatoid arthritis (the Swedish TIRA project). Rheumatology (Oxford) 2008;47:415–17.
   PubMed Web of Science ®Google Scholar
• Petty RE, Southwood TR, Manners P, Baum J, Glass DN, Goldenberg J, International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol 2004;31:390–2.
   PubMed Web of Science ®Google Scholar
• Hamann L, Hamprecht A, Gomma A, Schumann RR. Rapid and inexpensive real-time PCR for genotyping functional polymorphisms within the Toll-like receptor -2, -4, and -9 genes. J Immunol Methods 2004;285:281–91.
   PubMed Web of Science ®Google Scholar
• Johnson CM, Lyle EA, Omueti KO, Stepensky VA, Yegin O, Alpsoy E, Cutting edge: a common polymorphism impairs cell surface trafficking and functional responses of TLR1 but protects against leprosy. J Immunol 2007;178:7520–4.
   PubMed Web of Science ®Google Scholar
• Lin YT, Wang CT, Gershwin ME, Chiang BL. The pathogenesis of oligoarticular/polyarticular vs systemic juvenile idiopathic arthritis. Autoimmun Rev 2011;10:482–9.
   PubMed Web of Science ®Google Scholar
• Miossec P. Interleukin-17 and Th17 cells: from adult to juvenile arthritis - now it is serious! Arthritis Rheum 2011;63:2168-71.
   PubMed Web of Science ®Google Scholar
• van Luijn JC, Danz M, Bijlsma JW, Gribnau FW, Leufkens HG. Post-approval trials of new medicines: widening use or deepening knowledge? Analysis of 10 years of etanercept. Scand J Rheumatol 2011;40:183–91.
   PubMed Web of Science ®Google Scholar
• Iannone F, Fanizzi R, Scioscia C, Anelli MG, Lapadula G. Body mass does not affect the remission of psoriatic arthritis patients on anti-TNF-alpha therapy. Scand J Rheumatol 2013;42:41–4.
   PubMed Web of Science ®Google Scholar
• Lewis GJ, Massey DC, Zhang H, Bredin F, Tremelling M, Lee JC, Genetic association between NLRP3 variants and Crohn’s disease does not replicate in a large UK panel. Inflamm Bowel Dis 2011;17:1387–91.
   PubMed Web of Science ®Google Scholar
• Verma D, Sarndahl E, Andersson H, Eriksson P, Fredrikson M, Jonsson JI, The Q705K polymorphism in NLRP3 is a gain-of-function alteration leading to excessive interleukin-1beta and IL-18 production. PLoS One 2012;7:e34977.
   Web of Science ®Google Scholar
• Sui J, Li H, Fang Y, Liu Y, Li M, Zhong B, NLRP1 gene polymorphism influences gene transcription and is a risk factor for rheumatoid arthritis in Han Chinese. Arthritis Rheum 2012; 64:647–54.
   PubMed Web of Science ®Google Scholar
• Pontillo A, Brandao L, Guimaraes R, Segat L, Araujo J, Crovella S. Two SNPs in NLRP3 gene are involved in the predisposition to type-1 diabetes and celiac disease in a pediatric population from northeast Brazil. Autoimmunity 2010;43:583–9.
   PubMed Web of Science ®Google Scholar
• Pontillo A, Girardelli M, Kamada AJ, Pancotto JA, Donadi EA, Crovella S, Polymorphisms in inflammasome genes are involved in the predisposition to systemic lupus erythematosus. Autoimmunity 2012;45:271–8.
   PubMed Web of Science ®Google Scholar
• Schoultz I, Verma D, Halfvarsson J, Torkvist L, Fredrikson M, Sjoqvist U, Combined polymorphisms in genes encoding the inflammasome components NALP3 and CARD8 confer susceptibility to Crohn’s disease in Swedish men. Am J Gastroenterol 2009;104:1180–8.
   PubMed Web of Science ®Google Scholar
• Garcia-Bermudez M, Lopez-Mejias R, Gonzalez-Juanatey C, Corrales A, Castaneda S, Ortiz AM, CARD8 rs2043211 (p.C10X) polymorphism is not associated with disease susceptibility or cardiovascular events in Spanish rheumatoid arthritis patients. DNA Cell Biol 2013;32:28–33.
   PubMed Web of Science ®Google Scholar
• Kastbom A, Johansson M, Verma D, Soderkvist P, Rantapaa-Dahlqvist S. CARD8 p.C10X polymorphism is associated with inflammatory activity in early rheumatoid arthritis. Ann Rheum Dis 2010;69:723–6.
   PubMed Web of Science ®Google Scholar
• Nistala K, Moncrieffe H, Newton KR, Varsani H, Hunter P, Wedderburn LR. Interleukin-17-producing T cells are enriched in the joints of children with arthritis, but have a reciprocal relationship to regulatory T cell numbers. Arthritis Rheum 2008;58:875–87.
   PubMed Web of Science ®Google Scholar