Genetic regulation of serum cytokines in systemic lupus erythematosus

Chun, 2007, Cytokine IL-6 and IL-10 as biomarkers in systemic lupus erythematosus, J Clin Immunol, 27, 461, 10.1007/s10875-007-9104-0 Liu, 1998, Impaired production of IL-12 in system lupus erythematosus. II: IL-12 production in vitro is correlated negatively with serum IL-10, positively with serum IFN-gamma and negatively with disease activity in SLE, Cytokine, 10, 148, 10.1006/cyto.1997.0269 Grondal, 2000, Cytokine production, serum levels and disease activity in systemic lupus erythematosus, Clin Exp Rheumatol, 18, 565 Rahman, 2008, Systemic lupus erythematosus, N Engl J Med, 358, 929, 10.1056/NEJMra071297 Kariuki, 2008, The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interferon-alpha activity and low tumor necrosis factor alpha levels in patients with lupus, Arthritis Rheum, 58, 2818, 10.1002/art.23728 Studnicka-Benke, 1996, Tumour necrosis factor alpha and its soluble receptors parallel clinical disease and autoimmune activity in systemic lupus erythematosus, Br J Rheumatol, 35, 1067, 10.1093/rheumatology/35.11.1067 Kariuki, 2009, Age- and gender-specific modulation of serum osteopontin and interferon-alpha by osteopontin genotype in systemic lupus erythematosus, Genes Immun, 10, 487, 10.1038/gene.2009.15 Hooks, 1979, Immune interferon in the circulation of patients with autoimmune disease, N Engl J Med, 301, 5, 10.1056/NEJM197907053010102 Niewold, 2008, Interferon alpha-induced lupus: proof of principle, J Clin Rheumatol, 14, 131, 10.1097/RHU.0b013e318177627d Crow, 2007, Type I interferon in systemic lupus erythematosus, Curr Top Microbiol Immunol, 316, 359, 10.1007/978-3-540-71329-6_17 Baechler, 2003, Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus, Proc Natl Acad Sci U S A, 100, 2610, 10.1073/pnas.0337679100 Fairhurst, 2006, Systemic lupus erythematosus: multiple immunological phenotypes in a complex genetic disease, Adv Immunol, 92, 1, 10.1016/S0065-2776(06)92001-X Crow, 2003, Microarray analysis of interferon-regulated genes in SLE, Autoimmunity, 36, 481, 10.1080/08916930310001625952 Hua, 2006, Functional assay of type I interferon in systemic lupus erythematosus plasma and association with anti-RNA binding protein autoantibodies, Arthritis Rheum, 54, 1906, 10.1002/art.21890 Niewold, 2007, High serum IFN-alpha activity is a heritable risk factor for systemic lupus erythematosus, Genes Immun, 8, 492, 10.1038/sj.gene.6364408 Landolt-Marticorena, 2009, Lack of association between the interferon-alpha signature and longitudinal changes in disease activity in Systemic Lupus Erythematosus, Ann Rheum Dis, 68, 1440, 10.1136/ard.2008.093146 Moser, 2009, Recent insights into the genetic basis of systemic lupus erythematosus, Genes Immun, 10, 373, 10.1038/gene.2009.39 Harley, 2009, Genetic susceptibility to SLE: new insights from fine mapping and genome-wide association studies, Nat Rev Genet, 10, 285, 10.1038/nrg2571 Takaoka, 2006, Interferon signalling network in innate defence, Cell Microbiol, 8, 907, 10.1111/j.1462-5822.2006.00716.x Kirou, 2005, Activation of the interferon-alpha pathway identifies a subgroup of systemic lupus erythematosus patients with distinct serologic features and active disease, Arthritis Rheum, 52, 1491, 10.1002/art.21031 Ytterberg, 1982, Serum interferon levels in patients with systemic lupus erythematosus, Arthritis Rheum, 25, 401, 10.1002/art.1780250407 Niewold, 2008, Association of the IRF5 risk haplotype with high serum interferon-alpha activity in systemic lupus erythematosus patients, Arthritis Rheum, 58, 2481, 10.1002/art.23613 Ronnblom, 1990, Possible induction of systemic lupus erythematosus by interferon-alpha treatment in a patient with a malignant carcinoid tumour, J Intern Med, 227, 207, 10.1111/j.1365-2796.1990.tb00144.x Niewold, 2005, Systemic lupus erythematosus arising during interferon-alpha therapy for cryoglobulinemic vasculitis associated with hepatitis C, Clin Rheumatol, 24, 178, 10.1007/s10067-004-1024-2 Tsao, 2002, Familiality and co-occurrence of clinical features of systemic lupus erythematosus, Arthritis Rheum, 46, 2678, 10.1002/art.10519 Ramos, 2006, Familial aggregation and linkage analysis of autoantibody traits in pedigrees multiplex for systemic lupus erythematosus, Genes Immun, 7, 417, 10.1038/sj.gene.6364316 Ioannou, 2000, Current evidence for the induction of autoimmune rheumatic manifestations by cytokine therapy, Arthritis Rheum, 43, 1431, 10.1002/1529-0131(200007)43:7<1431::AID-ANR3>3.0.CO;2-E Petri, 2002, Epidemiology of systemic lupus erythematosus, Best Pract Res Clin Rheumatol, 16, 847, 10.1053/berh.2002.0259 Lopez, 2003, Epidemiology of systemic lupus erythematosus in a northern Spanish population: gender and age influence on immunological features, Lupus, 12, 860, 10.1191/0961203303lu469xx Szyper-Kravitz, 2005, The neuroendocrine-immune interactions in systemic lupus erythematosus: a basis for understanding disease pathogenesis and complexity, Rheum Dis Clin North Am, 31, 161, 10.1016/j.rdc.2004.10.004 van Vollenhoven, 1994, An open study of dehydroepiandrosterone in systemic lupus erythematosus, Arthritis Rheum, 37, 1305, 10.1002/art.1780370906 Chagnon, 2006, Identification and characterization of an Xp22.33;Yp11.2 translocation causing a triplication of several genes of the pseudoautosomal region 1 in an XX male patient with severe systemic lupus erythematosus, Arthritis Rheum, 54, 1270, 10.1002/art.21733 Stevens, 2005, Maternal HLA class II compatibility in men with systemic lupus erythematosus, Arthritis Rheum, 52, 2768, 10.1002/art.21256 Niewold, 2008, Age- and sex-related patterns of serum interferon-alpha activity in lupus families, Arthritis Rheum, 58, 2113, 10.1002/art.23619 Denhardt, 1998, Osteopontin expression and function: role in bone remodeling, J Cell Biochem Suppl, 30-31, 92, 10.1002/(SICI)1097-4644(1998)72:30/31+<92::AID-JCB13>3.0.CO;2-A Lampe, 1991, Polyclonal B cell activation by the Eta-1 cytokine and the development of systemic autoimmune disease, J Immunol, 147, 2902, 10.4049/jimmunol.147.9.2902 Scatena, 2007, Osteopontin: a multifunctional molecule regulating chronic inflammation and vascular disease, Arterioscler Thromb Vasc Biol, 27, 2302, 10.1161/ATVBAHA.107.144824 Masutani, 2001, Predominance of Th1 immune response in diffuse proliferative lupus nephritis, Arthritis Rheum, 44, 2097, 10.1002/1529-0131(200109)44:9<2097::AID-ART360>3.0.CO;2-6 Chabas, 2001, The influence of the proinflammatory cytokine, osteopontin, on autoimmune demyelinating disease, Science, 294, 1731, 10.1126/science.1062960 Shinohara, 2006, Osteopontin expression is essential for interferon-alpha production by plasmacytoid dendritic cells, Nat Immunol, 7, 498, 10.1038/ni1327 Forton, 2002, An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosus, Hum Mutat, 19, 459, 10.1002/humu.9025 D'Alfonso, 2005, Two single-nucleotide polymorphisms in the 5' and 3' ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus, Arthritis Rheum, 52, 539, 10.1002/art.20808 Han, 2008, Osteopontin and systemic lupus erythematosus association: a probable gene-gender interaction, PLoS ONE, 3, e0001757, 10.1371/journal.pone.0001757 Vanacker, 1998, Activation of the osteopontin promoter by the orphan nuclear receptor estrogen receptor related alpha, Cell Growth Differ, 9, 1007 Lee, 2007, The PTPN22 C1858T functional polymorphism and autoimmune diseases–a meta-analysis, Rheumatology, 46, 49, 10.1093/rheumatology/kel170 Mavragani, 2007, Activation of the type I interferon pathway in autoimmune thyroid disease, Arthritis Rheum, 56, S229 Palucka, 2005, Cross-regulation of TNF and IFN-alpha in autoimmune diseases, Proc Natl Acad Sci U S A, 102, 3372, 10.1073/pnas.0408506102 Devendra, 2004, Interferon alpha—a potential link in the pathogenesis of viral-induced type 1 diabetes and autoimmunity, Clin Immunol, 111, 225, 10.1016/j.clim.2004.01.008 Walker, 2007, Characterisation of a dendritic cell subset in synovial tissue which strongly expresses Jak/STAT transcription factors from patients with rheumatoid arthritis, Ann Rheum Dis, 66, 992, 10.1136/ard.2006.060822 Roelofs, 2009, Type I interferons might form the link between Toll-like receptor (TLR) 3/7 and TLR4-mediated synovial inflammation in rheumatoid arthritis (RA), Ann Rheum Dis, 68, 1486, 10.1136/ard.2007.086421 Barrett, 2008, Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease, Nat Genet, 40, 955, 10.1038/ng.175 Rutgeerts, 2009, Biological therapies for inflammatory bowel diseases, Gastroenterology, 136, 1182, 10.1053/j.gastro.2009.02.001 Vang, 2007, Protein tyrosine phosphatase PTPN22 in human autoimmunity, Autoimmunity, 40, 453, 10.1080/08916930701464897 Rieck, 2007, Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes, J Immunol, 179, 4704, 10.4049/jimmunol.179.7.4704 Pierer, 2006, Association of PTPN22 1858 single-nucleotide polymorphism with rheumatoid arthritis in a German cohort: higher frequency of the risk allele in male compared to female patients, Arthritis Res Ther, 8, R75, 10.1186/ar1945 Dastmalchi, 2008, A high incidence of disease flares in an open pilot study of infliximab in patients with refractory inflammatory myopathies, Ann Rheum Dis, 67, 1670, 10.1136/ard.2007.077974 Mavragani, 2007, Augmented interferon-alpha pathway activation in patients with Sjogren's syndrome treated with etanercept, Arthritis Rheum, 56, 3995, 10.1002/art.23062 Tyler, 2007, Pre-assembly of STAT4 with the human IFN-alpha/beta receptor-2 subunit is mediated by the STAT4 N-domain, Mol Immunol, 44, 1864, 10.1016/j.molimm.2006.10.006 Remmers, 2007, STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus, N Engl J Med, 357, 977, 10.1056/NEJMoa073003 Sigurdsson, 2008, A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5, Hum Mol Genet, 17, 2868, 10.1093/hmg/ddn184 Korman, 2008, Variant form of STAT4 is associated with primary Sjogren's syndrome, Genes Immun, 9, 267, 10.1038/gene.2008.1 Prahalad, 2009, Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis, Arthritis Rheum, 60, 2124, 10.1002/art.24618 Bave, 2005, Activation of the type I interferon system in primary Sjogren's syndrome: a possible etiopathogenic mechanism, Arthritis Rheum, 52, 1185, 10.1002/art.20998 Niewold, 2008, Serum type I interferon activity is dependent on maternal diagnosis in anti-SSA/Ro-positive mothers of children with neonatal lupus, Arthritis Rheum, 58, 541, 10.1002/art.23191 Taylor, 2008, Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus, PLoS Genet, 4, e1000084, 10.1371/journal.pgen.1000084 Kariuki, 2009, Cutting edge: autoimmune disease risk variant of STAT4 confers increased sensitivity to IFN-alpha in lupus patients in vivo, J Immunol, 182, 34, 10.4049/jimmunol.182.1.34 Jacob, 1988, Tumour necrosis factor-alpha in murine autoimmune ‘lupus’ nephritis, Nature, 331, 356, 10.1038/331356a0 Aringer, 2008, The role of tumor necrosis factor-alpha in systemic lupus erythematosus, Arthritis Res Ther, 10, 202, 10.1186/ar2341 Yao, 2009, Neutralization of interferon-alpha/beta-inducible genes and downstream effect in a phase I trial of an anti-interferon-alpha monoclonal antibody in systemic lupus erythematosus, Arthritis Rheum, 60, 1785, 10.1002/art.24557 Fan, 2008, Treatment of collagen-induced arthritis with an anti-osteopontin monoclonal antibody through promotion of apoptosis of both murine and human activated T cells, Arthritis Rheum, 58, 2041, 10.1002/art.23490