IRF5 risk polymorphisms contribute to interindividual variance in pattern recognition receptor-mediated cytokine secretion in human monocyte-derived cells

Journal of Immunology

Volumn 188, Issue 11, 2012, Pages 5348-5356

  Hedl, Matija ^a   Abraham, Clara ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; CYTOKINE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERFERON REGULATORY FACTOR 5; LIGAND; MAMMALIAN TARGET OF RAPAMYCIN; MITOGEN ACTIVATED PROTEIN KINASE; PATTERN RECOGNITION RECEPTOR; PHOSPHATIDYLINOSITOL 3 KINASE; TOLL LIKE RECEPTOR 2;

ALLELE; ARTICLE; AUTOIMMUNITY; COHORT ANALYSIS; CONTROLLED STUDY; CYTOKINE RELEASE; DENDRITIC CELL; DNA POLYMORPHISM; GENE; GENE DOSAGE; GENE EXPRESSION REGULATION; GENE SILENCING; GENETIC HETEROGENEITY; GENETIC RISK; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; IRF5 GENE; MACROPHAGE; MAJOR CLINICAL STUDY; MONOCYTE; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN PROTEIN INTERACTION; RISK ASSESSMENT; SIGNAL TRANSDUCTION; TRANSCRIPTION INITIATION;

AUTOIMMUNE DISEASES; CELLS, CULTURED; COHORT STUDIES; CYTOKINES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HUMANS; INFLAMMATION; INTERFERON REGULATORY FACTORS; MONOCYTES; NOD2 SIGNALING ADAPTOR PROTEIN; POLYMORPHISM, GENETIC; PRIMARY CELL CULTURE; RECEPTORS, PATTERN RECOGNITION; RISK FACTORS;

EID: 84862096197     PISSN: 00221767     EISSN: 15506606     Source Type: Journal    
DOI: 10.4049/jimmunol.1103319     Document Type: Article

References (42)

1. Abraham, C., and J. H. Cho. 2009. Inflammatory bowel disease. N. Engl. J. Med. 361: 2066-2078.
2. Abraham, C., and R. Medzhitov. 2011. Interactions between the host innate immune system and microbes in inflammatory bowel disease. Gastroenterology 140: 1729-1737.
3. Cadwell, K., K. K. Patel, N. S. Maloney, T. C. Liu, A. C. Ng, C. E. Storer, R. D. Head, R. Xavier, T. S. Stappenbeck, and H. W. Virgin. 2010. Virus-plus-susceptibility gene interaction determines Crohn's disease gene Atg16L1 phenotypes in intestine. Cell 141: 1135-1145.
4. Trinchieri, G. 2010. Type I interferon: friend or foe? J. Exp. Med. 207: 2053-2063.
5. Smyth, D. J., J. D. Cooper, R. Bailey, S. Field, O. Burren, L. J. Smink, C. Guja, C. Ionescu-Tirgoviste, B. Widmer, D. B. Dunger, et al. 2006. A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. Nat. Genet. 38: 617-619. (Pubitemid 43927300)
6. Dideberg, V., G. Kristjansdottir, L. Milani, C. Libioulle, S. Sigurdsson, E. Louis, A. C. Wiman, S. Vermeire, P. Rutgeerts, J. Belaiche, et al. 2007. An insertion-deletion polymorphism in the interferon regulatory factor 5 (IRF5) gene confers risk of inflammatory bowel diseases. Hum. Mol. Genet. 16: 3008-3016. (Pubitemid 350131319)
7. Kelly, J. A., J. M. Kelley, K. M. Kaufman, J. Kilpatrick, G. R. Bruner, J. T. Merrill, J. A. James, S. G. Frank, E. Reams, E. E. Brown, et al. 2008. Interferon regulatory factor-5 is genetically associated with systemic lupus erythematosus in African Americans. Genes Immun. 9: 187-194. (Pubitemid 351584185)
8. Graham, R. R., S. V. Kozyrev, E. C. Baechler, M. V. Reddy, R. M. Plenge, J. W. Bauer, W. A. Ortmann, T. Koeuth, M. F. González Escribano, B. Pons- Estel, et al; Argentine and Spanish Collaborative Groups. 2006. A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat. Genet. 38: 550-555.
9. Graham, R. R., C. Kyogoku, S. Sigurdsson, I. A. Vlasova, L. R. Davies, E. C. Baechler, R. M. Plenge, T. Koeuth, W. A. Ortmann, G. Hom, et al. 2007. Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc. Natl. Acad. Sci. USA 104: 6758-6763. (Pubitemid 47175574)
10. Sigurdsson, S., H. H. Göring, G. Kristjansdottir, L. Milani, G. Nordmark, J. K. Sandling, M. L. Eloranta, D. Feng, N. Sangster-Guity, I. Gunnarsson, et al. 2008. Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus. Hum. Mol. Genet. 17: 872-881. (Pubitemid 351368993)
11. Zenewicz, L. A., C. Abraham, R. A. Flavell, and J. H. Cho. 2010. Unraveling the genetics of autoimmunity. Cell 140: 791-797.
12. Rönnblom, L., and K. B. Elkon. 2010. Cytokines as therapeutic targets in SLE. Nat. Rev. Rheumatol. 6: 339-347.
13. Strober, W., and I. J. Fuss. 2011. Proinflammatory cytokines in the pathogenesis of inflammatory bowel diseases. Gastroenterology 140: 1756-1767.
14. Hedl, M., J. Li, J. H. Cho, and C. Abraham. 2007. Chronic stimulation of Nod2 mediates tolerance to bacterial products. Proc. Natl. Acad. Sci. USA 104: 19440-19445.
15. Panda, A., F. Qian, S. Mohanty, D. van Duin, F. K. Newman, L. Zhang, S. Chen, V. Towle, R. B. Belshe, E. Fikrig, et al. 2010. Age-associated decrease in TLR function in primary human dendritic cells predicts influenza vaccine response. J. Immunol. 184: 2518-2527.
16. Wurfel, M. M., W. Y. Park, F. Radella, J. Ruzinski, A. Sandstrom, J. Strout, R. E. Bumgarner, and T. R. Martin. 2005. Identification of high and low res- ponders to lipopolysaccharide in normal subjects: an unbiased approach to identify modulators of innate immunity. J. Immunol. 175: 2570-2578. (Pubitemid 41113870)
17. Franke, A., D. P. McGovern, J. C. Barrett, K. Wang, G. L. Radford-Smith, T. Ahmad, C. W. Lees, T. Balschun, J. Lee, R. Roberts, et al. 2010. Genomewide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat. Genet. 42: 1118-1125.
18. Hugot, J. P., M. Chamaillard, H. Zouali, S. Lesage, J. P. Cézard, J. Belaiche, S. Almer, C. Tysk, C. A. O'Morain, M. Gassull, et al. 2001. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411: 599-603. (Pubitemid 32531408)
19. Ogura, Y., D. K. Bonen, N. Inohara, D. L. Nicolae, F. F. Chen, R. Ramos, H. Britton, T. Moran, R. Karaliuskas, R. H. Duerr, et al. 2001. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411: 603-606. (Pubitemid 32531409)
20. Li, J., T. Moran, E. Swanson, C. Julian, J. Harris, D. K. Bonen, M. Hedl, D. L. Nicolae, C. Abraham, and J. H. Cho. 2004. Regulation of IL-8 and IL-1b expression in Crohn's disease associated NOD2/CARD15 mutations. Hum. Mol. Genet. 13: 1715-1725. (Pubitemid 39173441)
21. Purcell, S., B. Neale, K. Todd-Brown, L. Thomas, M. A. Ferreira, D. Bender, J. Maller, P. Sklar, P. I. de Bakker, M. J. Daly, and P. C. Sham. 2007. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81: 559-575. (Pubitemid 47330214)
22. Girardin, S. E., L. H. Travassos, M. Hervé, D. Blanot, I. G. Boneca, D. J. Philpott, P. J. Sansonetti, and D. Mengin-Lecreulx. 2003. Peptidoglycan molecular requirements allowing detection by Nod1 and Nod2. J. Biol. Chem. 278: 41702-41708. (Pubitemid 37310428)
23. Inohara, N., Y. Ogura, A. Fontalba, O. Gutierrez, F. Pons, J. Crespo, K. Fukase, S. Inamura, S. Kusumoto, M. Hashimoto, et al. 2003. Host recognition of bacterial muramyl dipeptide mediated through NOD2: implications for Crohn's disease. J. Biol. Chem. 278: 5509-5512. (Pubitemid 36800790)
24. Kamada, N., T. Hisamatsu, S. Okamoto, H. Chinen, T. Kobayashi, T. Sato, A. Sakuraba, M. T. Kitazume, A. Sugita, K. Koganei, et al. 2008. Unique CD14 intestinal macrophages contribute to the pathogenesis of Crohn disease via IL- 23/IFN-γ axis. J. Clin. Invest. 118: 2269-2280. (Pubitemid 351872344)
25. Hedl, M., and C. Abraham. 2011. Secretory mediators regulate Nod2-induced tolerance in human macrophages. Gastroenterology 140: 231-241.
26. Hedl, M., and C. Abraham. 2011. Distinct roles for Nod2 protein and autocrine interleukin-1b in muramyl dipeptide-induced mitogen-activated protein kinase activation and cytokine secretion in human macrophages. J. Biol. Chem. 286: 26440-26449.
27. Netea, M. G., G. Ferwerda, D. J. de Jong, T. Jansen, L. Jacobs, M. Kramer, T. H. Naber, J. P. Drenth, S. E. Girardin, B. J. Kullberg, et al. 2005. Nucleotide-binding oligomerization domain-2 modulates specific TLR pathways for the induction of cytokine release. J. Immunol. 174: 6518-6523. (Pubitemid 40663847)
28. Han, J. W., H. F. Zheng, Y. Cui, L. D. Sun, D. Q. Ye, Z. Hu, J. H. Xu, Z. M. Cai, W. Huang, G. P. Zhao, et al. 2009. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. Nat. Genet. 41: 1234-1237.
29. Kawasaki, A., C. Kyogoku, J. Ohashi, R. Miyashita, K. Hikami, M. Kusaoi, K. Tokunaga, Y. Takasaki, H. Hashimoto, T. W. Behrens, and N. Tsuchiya. 2008. Association of IRF5 polymorphisms with systemic lupus erythematosus in a Japanese population: support for a crucial role of intron 1 polymorphisms. Arthritis Rheum. 58: 826-834. (Pubitemid 351364880)
30. Pandey, A. K., Y. Yang, Z. Jiang, S. M. Fortune, F. Coulombe, M. A. Behr, K. A. Fitzgerald, C. M. Sassetti, and M. A. Kelliher. 2009. NOD2, RIP2 and IRF5 play a critical role in the type I interferon response to Mycobacterium tuberculosis. PLoS Pathog. 5: e1000500.
31. Takaoka, A., H. Yanai, S. Kondo, G. Duncan, H. Negishi, T. Mizutani, S. Kano, K. Honda, Y. Ohba, T. W. Mak, and T. Taniguchi. 2005. Integral role of IRF-5 in the gene induction programme activated by Toll-like receptors. Nature 434: 243-249. (Pubitemid 40388058)
32. H17 responses. Nat. Immunol. 12: 231-238.
33. Kawai, T., and S. Akira. 2010. The role of pattern-recognition receptors in innate immunity: update on Toll-like receptors. Nat. Immunol. 11: 373-384.
34. Bansal, K., and K. N. Balaji. 2011. Intracellular pathogen sensor NOD2 programs macrophages to trigger Notch1 activation. J. Biol. Chem. 286: 5823-5835.
35. Niewold, T. B., J. A. Kelly, S. N. Kariuki, B. S. Franek, A. A. Kumar, K. M. Kaufman, K. Thomas, D. Walker, S. Kamp, J. M. Frost, et al. 2012. IRF5 haplotypes demonstrate diverse serological associations which predict serum interferon α activity and explain the majority of the genetic association with systemic lupus erythematosus. Ann. Rheum. Dis. 71: 463-468.
36. Sigurdsson, S., G. Nordmark, H. H. Göring, K. Lindroos, A. C. Wiman, G. Sturfelt, A. Jönsen, S. Rantapää-Dahlqvist, B. Möller, J. Kere, et al. 2005. Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am. J. Hum. Genet. 76: 528-537. (Pubitemid 40250533)
37. Morley, M., C. M. Molony, T. M. Weber, J. L. Devlin, K. G. Ewens, R. S. Spielman, and V. G. Cheung. 2004. Genetic analysis of genome-wide variation in human gene expression. Nature 430: 743-747.
38. Barnes, B. J., M. J. Kellum, A. E. Field, and P. M. Pitha. 2002. Multiple regulatory domains of IRF-5 control activation, cellular localization, and induction of chemokines that mediate recruitment of T lymphocytes. Mol. Cell. Biol. 22: 5721-5740. (Pubitemid 34815822)
39. Paun, A., J. T. Reinert, Z. Jiang, C. Medin, M. Y. Balkhi, K. A. Fitzgerald, and P. M. Pitha. 2008. Functional characterization of murine interferon regulatory factor 5 (IRF-5) and its role in the innate antiviral response. J. Biol. Chem. 283: 14295-14308.
40. Paun, A., R. Bankoti, T. Joshi, P. M. Pitha, and S. Stäger. 2011. Critical role of IRF-5 in the development of T helper 1 responses to Leishmania donovani infection. PLoS Pathog. 7: e1001246.
41. Tada, Y., S. Kondo, S. Aoki, S. Koarada, H. Inoue, R. Suematsu, A. Ohta, T. W. Mak, and K. Nagasawa. 2011. Interferon regulatory factor 5 is critical for the development of lupus in MRL/lpr mice. Arthritis Rheum. 63: 738-748.
42. Denlinger, L. C., G. Angelini, K. Schell, D. N. Green, A. G. Guadarrama, U. Prabhu, D. B. Coursin, P. J. Bertics, and K. Hogan. 2005. Detection of human P2X7 nucleotide receptor polymorphisms by a novel monocyte pore assay predictive of alterations in lipopolysaccharide-induced cytokine production. J. Immunol. 174: 4424-4431. (Pubitemid 40396026)