Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus

Arthritis and Rheumatism

Volumn 62, Issue 2, 2010, Pages 562-573

  Feng, Di ^a   Stone, Rivka C ^a   Eloranta, Maija Leena ^b   Sangster Guity, Niquiche ^c   Nordmark, Gunnel ^b   Sigurdsson, Snaevar ^b   Wang, Chuan ^b   Alm, Gunnar ^d   Syvänen, Ann Christine ^b   Rönnblom, Lars ^b   Barnes, Betsy J ^a,c  

^a UNIVERSITY OF MEDICINE AND DENTISTRY OF NEW JERSEY   (United States)

^b UPPSALA UNIVERSITY   (Sweden)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d SWEDISH UNIVERSITY OF AGRICULTURAL SCIENCES   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

INTERFERON REGULATORY FACTOR 5;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; ASSAY; BLOOD CELL; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; CORRELATIONAL STUDY; DONOR; EMBRYO; EXON; FEMALE; FLOW CYTOMETRY; GENE DELETION; GENE INSERTION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; MALE; POPULATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SWEDEN; SYSTEMIC LUPUS ERYTHEMATOSUS; UPREGULATION;

ADULT; ALTERNATIVE SPLICING; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HAPLOTYPES; HUMANS; INTERFERON REGULATORY FACTORS; INTERFERON-ALPHA; LEUKOCYTES; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 75749153301     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.27223     Document Type: Article

References (40)

1. Hooks JJ, Moutsopoulos HM, Geis SA, Stahl NI, Decker JL, Notkins AL. Immune interferon in the circulation of patients with autoimmune disease. N Engl J Med 1979:301:5-8.
2. Bengtsson AA, Sturfelt G, Truedsson L, Blomberg J, Alm G, Vallin H, et al. Activation of type I interferon system in systemic lupus erythematosus correlates with disease activity but not the antiretroviral antibodies. Lupus 2000;9:664-71.
3. Baechler EC, Batliwalla FM, Karypis G, Gaffney PM, Ortmann WA, Espe KJ, et al. Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc Natl Acad Sci U S A 2003;100:2610-5.
4. Ronnblom L, Eloranta ML, Alm GV. The type I interferon system in systemic lupus erythematosus [review]. Arthritis Rheum 2006;54:408-20.
5. Niewold TB, Hua J, Lehman TJ, Harley JB, Crow MK. High serum IFN-α activity is a heritable risk factor for systemic lupus erythematosus. Genes Immun 2007;8:492-502.
6. Barnes BJ, Moore PA, Pitha PM. Virus-specific activation of a novel interferon regulatory factor, IRF-5, results in the induction of distinct interferon α genes. J Biol Chem 2001;276:23382-90.
7. Barnes BJ, Kellum MJ, Field AE, Pitha PM. Multiple regulatory domains of IRF-5 control activation, cellular localization and induction of chemokines that mediate T-lymphocyte recruitment. Mol Cell Biol 2002;22:5721-40.
8. Schoenemeyer A, Barnes BJ, Mancl ME, Latz E, Pitha PM, Fitzgerald KA, et al. The interferon regulatory factor, IRF5, is a central mediator of TLR7 signaling. J Biol Chem 2005;280:17005-12.
9. Takaoka A, Yanai H, Kondo S, Duncan G, Negishi H, Mizutani T, et al. Integral role of IRF-5 in the gene induction programme activated by toll-like receptors. Nature 2005;434:243-9.
10. Yasuda K, Richez C, Maciaszek JW, Agrawal N, Akira S, Marshak-Rothstein A, et al. Murine dendritic cell type I IFN production induced by human IgG-RNA immune complexes is IFN regulatory factor (IRF)5 and IRF7 dependent and is required for IL-6 production. J Immunol 2007;178:6876-85.
11. Barnes BJ, Kellum MJ, Pinder KE, Frisancho JA, Pitha PM. IRF-5, a novel mediator of cell-cycle arrest and cell death. Cancer Res 2003;63:6424-31.
12. Barnes BJ, Richards J, Mancl M, Hanash S, Beretta L, Pitha PM. Global and distinct targets of IRF-5 and IRF-7 during innate response to viral infection. J Biol Chem 2004;279:45194-207.
13. Hu G, Mancl ME, Barnes BJ. Signaling through interferon regulatory factor-5 sensitizes p53-deficient tumor to DNA damage-induced apoptosis and cell death. Cancer Res 2005;65:7403-12.
14. Hu G, Barnes BJ. IRF-5 is a mediator of the death receptor-induced apoptotic signaling pathway. J Biol Chem 2009;284:2767-77.
15. Yanai H, Chen HM, Inuzuka T, Kondo S, Mak TW, Takaoka A, et al. Role of IFN regulatory factor 5 transcription factor in antiviral immunity and tumor suppression. Proc Natl Acad Sci U S A 2007;104:3402-7.
16. Sigurdsson S, Nordmark G, Goring HH, Lindroos K, Wiman AC, Sturfelt G, et al. Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet 2005;76:528-37.
17. Demirci FY, Manzi S, Ramsey-Goldman R, Minster RL, Kenney M, Shaw PS, et al. Association of a common interferon regulatory factor 5 (IRF5) variant with increased risk of systemic lupus erythematosus (SLE). Ann Hum Genet 2006;71:308-11.
18. Cunninghame Graham DS, Manku H, Wagner S, Reid J, Timms K, Gutin A, et al. Association of IRF5 in UK SLE families identifies a variant involved in polyadenylation. Hum Mol Genet 2007;16:579-91.
19. Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, et al. 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 2006;38:550-5.
20. Kozyrev SV, Lewen S, Linga Reddy PM, Pons-Estel B and the Argentine Collaborative Group, Witte T and the German Collaborative Group, Junker P, et al. Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus. Arthritis Rheum 2007;56:1234-41.
21. Shin HD, Sung YK, Choi CB, Lee SO, Lee HW, Bae SC. Replication of genetic effects of interferon regulatory factor 5 (IRF5) on systemic lupus erythematosus in a Korean population. Arthritis Res Ther 2007;9:R32.
22. Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, Davies LR, Baechler EC, et al. Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci U S A 2007;104:6758-63.
23. Niewold TB, Kelly JA, Flesch MH, Espinoza LR, Harley JB, Crow MK. Association of the IRF5 risk haplotype with high serum interferon-α activity in systemic lupus erythematosus patients. Arthritis Rheum 2008;58:2481-7.
24. Sigurdsson S, Goring HH, Kristjansdottir G, Milani L, Nordmark G, Sandling JK, et al. 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 2008;17:872-81.
25. Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF, et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982;25:1271-7.
26. Gladman DD, Ibanez D, Urowitz MB. Systemic lupus erythematosus disease activity index 2000. J Rheumatol 2002;29:288-91.
27. Barr SG, Zonana-Nacach A, Magder LS, Petri M. Patterns of disease activity in systemic lupus erythematosus. Arthritis Rheum 1999;42:2682-8.
28. Fan JB, Oliphant A, Shen R, Kermani BG, Garcia F, Gunderson KL, et al. Highly parallel SNP genotyping. Cold Spring Harb Symp Quant Biol 2003;68:69-78.
29. Mancl ME, Hu G, Sangster-Guity N, Olshalsky SL, Hoops K, Fitzgerald-Bocarsly P, et al. Two distinct promoters regulate the alternative-spliced human interferon regulatory factor-5 variants: multiple variants with distinct cell-type specific expression, localization, regulation and function. J Biol Chem 2005;280:21078-90.
30. Vallin H, Blomberg S, Alm GV, Cederblad B, Ronnblom L. Patients with systemic lupus erythematosus (SLE) have a circulating inducer of interferon-α (IFN-α) production acting on leucocytes resembling immature dendritic cells. Clin Exp Immunol 1999;115:196-202.
31. Lerner MK, Steitz JA. Antibodies to small nuclear RNAs complexed with proteins are produced by patients with systemic lupus erythematosus. Proc Natl Acad Sci U S A 1979;76:5495-9.
32. Neugebauer KM, Merrill JT, Wener MH, Lahita RG, Roth MB. SR proteins are autoantigens in patients with systemic lupus erythematosus: importance of phosphoepitopes. Arthritis Rheum 2000;43:1768-78.
33. Yeon SI, Youn JH, Lim MH, Lee HJ, Kim YM, Choi JE, et al. Development of monoclonal antibodies against human IRF-5 and their use in identifying binding to nuclear import proteins karyopherin-α1 and -β1. Yonsei Med J 2008;49:1023-31.
34. Blomberg S, Eloranta ML, Magnusson M, Alm GV, Ronnblom L. Expression of the markers BDCA-2 and BDCA-4 and production of interferon-α by plasmacytoid dendritic cells in systemic lupus erythematosus. Arthritis Rheum 2003;48:2524-32.
35. Van Venrooij WJ, Hoet R, Castrop J, Hageman B, Mattaj IW, van de Putte LB. Anti-(U1) small nuclear RNA antibodies in antismall nuclear ribonucleoprotein sera from patients with connective tissue diseases. J Clin Invest 1990;86:2154-60.
36. Savarese E, Chae OW, Trowitzsch S, Weber G, Kastner B, Akira S, et al. U1 small nuclear ribonucleoprotein immune complexes induce type I interferon in plasmacytoid dendritic cells through TLR7. Blood 2006;107:3229-34.
37. Lovgren T, Eloranta ML, Kastner B, Wahren-Herlenius M, Alm GV, Ronnblom L. Induction of interferon-α by immune complexes or liposomes containing systemic lupus erythematosus autoantigen- and Sjögren's syndrome autoantigen-associated RNA. Arthritis Rheum 2006;54:1917-27.
38. Suh CH, Freed JH, Cohen PL. T cell reactivity to MHC class II-bound self peptides in systemic lupus erythematosus-prone MRL/lpr mice. J Immunol 2003;170:2229-35.
39. Martin HJ, Lee JM, Walls D, Hayward SD. Manipulation of the toll-like receptor 7 signaling pathway by Epstein-Barr virus. J Virol 2007;81:9748-58.
40. Ning S, Huye LE, Pagano JS. Interferon regulatory factor 5 represses expression of the Epstein-Barr virus oncoprotein LMP1: braking of the IRF7/LMP1 regulatory circuit. J Virol 2005;79:11671-6.