Association of IRF5 polymorphisms with systemic lupus erythematosus in a Japanese population: Support for a crucial role of intron 1 polymorphisms

Arthritis and Rheumatism

Volumn 58, Issue 3, 2008, Pages 826-834

  Kawasaki, Aya ^a   Kyogoku, Chieko ^b,c   Ohashi, Jun ^d   Miyashita, Risa ^d   Hikami, Koki ^a   Kusaoi, Makio ^e   Tokunaga, Katsushi ^d   Takasaki, Yoshinari ^e   Hashimoto, Hiroshi ^e   Behrens, Timothy W ^b,f   Tsuchiya, Naoyuki ^a  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b UNIVERSITY OF MINNESOTA   (United States)

^c KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

^e JUNTENDO UNIVERSITY   (Japan)

^f GENENTECH INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

INTERFERON REGULATORY FACTOR 5; MESSENGER RNA;

ADULT; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN TISSUE; INTRON; JAPANESE; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; INTERFERON REGULATORY FACTORS; INTRONS; JAPAN; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, MESSENGER;

EID: 40549100665     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.23216     Document Type: Article

References (24)

1. Kyogoku C, Tsuchiya N. A compass that points to lupus: genetic studies on type I interferon pathway. Genes Immun 2007;8:445-55.
2. Crow MK. Interferon-α: a new target for therapy in systemic lupus erythematosus? [editorial]. Arthritis Rheum 2003;48:2396-401.
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. Bennett L, Palucka AK, Arce E, Cantrell V, Borvak J, Banchereau J, et al. Interferon and granulopoiesis signatures in systemic lupus erythematosus blood. J Exp Med 2003;197:711-23.
5. Han GM, Chen SL, Shen N, Ye S, Bao CD, Gu YY. Analysis of gene expression profiles in human systemic lupus erythematosus using oligonucleotide microarray. Genes Immun 2003;4:177-86.
6. Kirou KA, Lee C, George S, Louca K, Papagiannis IG, Peterson MG, et al. Coordinate overexpression of interferon-α-induced genes in systemic lupus erythematosus. Arthritis Rheum 2004;50:3958-67.
7. 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.
8. 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.
9. 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.
10. 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.
11. Kozyrev SV, Lewen S, 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.
12. 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 2007;71:308-11.
13. Ferreiro-Neira I, Calaza M, Alonso-Perez E, Marchini M, Scorza R, Sebastiani GD, et al. Opposed independent effects and epistasis in the complex association of IRF5 to SLE. Genes Immun 2007;8:429-38.
14. Shin HD, Sung YK, Choi CB, Lee SO, Lee HW, Bae SC. Replication of the genetic effects of IFN regulatory factor 5 (IRF5) on systemic lupus erythematosus in a Korean population. Arthritis Res Ther 2007;9:R32.
15. 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.
16. 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.
17. 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.
18. Barnes BJ, Kellum MJ, Field AE, Pitha PM. Multiple regulatory domains of IRF-5 control activation, cellular localization, and induction of chemokines that mediate recruitment of T lymphocytes. Mol Cell Biol 2002;22:5721-40.
19. Schoenemeyer A, Barnes BJ, Mancl ME, Latz E, Goutagny N, Pitha PM, et al. The interferon regulatory factor, IRF5, is a central mediator of Toll-like receptor 7 signaling. J Biol Chem 2005;280:17005-12.
20. Tsuchiya N, Honda Z, Tokunaga K. Role of B cell inhibitory receptor polymorphisms in systemic lupus erythematosus: a negative times a negative makes a positive. J Hum Genet 2006;51:741-50.
21. 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.
22. DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials 1986;7:177-88.
23. Harada T, Kyttaris V, Li Y, Juang YT, Wang Y, Tsokos GC. Increased expression of STAT3 in SLE T cells contributes to enhanced chemokine-mediated cell migration. Autoimmunity 2007;40:1-8.
24. Thorburn CM, Prokunina-Olsson L, Sterba KA, Lum RF, Seldin MF, Alarcon-Riquelme ME, et al. Association of PDCD1 genetic variation with risk and clinical manifestations of systemic lupus erythematosus in a multiethnic cohort. Genes Immun 2007;8:279-87.