Association of functional polymorphisms in interferon regulatory factor 2 (IRF2) with susceptibility to systemic lupus erythematosus: A case-control association study

PLoS ONE

Volumn 9, Issue 10, 2014, Pages

  Kawasaki, Aya ^a   Furukawa, Hiroshi ^b   Nishida, Nao ^c   Warabi, Eiji ^a   Kondo, Yuya ^a   Ito, Satoshi ^d   Matsumoto, Isao ^a   Kusaoi, Makio ^e   Amano, Hirofumi ^e   Suda, Akiko ^f,g   Nagaoka, Shouhei ^f   Setoguchi, Keigo ^h   Nagai, Tatsuo ⁱ   Hirohata, Shunsei ⁱ   Shimada, Kota ^j   Sugii, Shoji ^j   Okamoto, Akira ^k   Chiba, Noriyuki ^l   Suematsu, Eiichi ^b   Ohno, Shigeru ^g   Katayama, Masao ^m   Okamoto, Akiko ⁿ   Kono, Hajime ⁿ   Tokunaga, Katsushi ^o   Takasaki, Yoshinari ^e   Hashimoto, Hiroshi ^e   Sumida, Takayuki ^a   Tohma, Shigeto ^b   Tsuchiya, Naoyuki ^a   more..

^a UNIVERSITY OF TSUKUBA   (Japan)

^b NATIONAL HOSPITAL ORGANIZATION   (Japan)

^c NATIONAL CENTER FOR GLOBAL HEALTH AND MEDICINE   (Japan)

^d Niigata Rheumatic Center   (Japan)

^e JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f Yokohama Minami Kyosai Hospital   (Japan)

^g YOKOHAMA CITY UNIVERSITY MEDICAL CENTER   (Japan)

^h TOKYO METROPOLITAN KOMAGOME HOSPITAL   (Japan)

ⁱ KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^j TOKYO METROPOLITAN TAMA MEDICAL CENTER   (Japan)

^k NATIONAL HOSPITAL ORGANIZATION HIMEJI MEDICAL CENTER   (Japan)

^l Japan   (Japan)

^m NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

ⁿ TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^o UNIVERSITY OF TOKYO   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA INTERFERON; INTERFERON REGULATORY FACTOR 2; LUCIFERASE; IRF2 PROTEIN, HUMAN;

ALLELE; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA SEQUENCE; ENZYME ACTIVITY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC CODE; GENOTYPE; HAPLOTYPE; HUMAN; IRF2 GENE; JAPANESE (PEOPLE); JURKAT CELL LINE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS; T LYMPHOCYTE; TRANSCRIPTION INITIATION; ADULT; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; SEQUENCE ANALYSIS;

ADULT; CASE-CONTROL STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPES; HUMANS; INTERFERON REGULATORY FACTOR-2; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS; TRANSCRIPTIONAL ACTIVATION;

EID: 84907682121     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0109764     Document Type: Article

References (41)

1. International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN), Harley JB, Alarcon-Riquelme ME, Criswell LA, Jacob CO, et al. (2008) Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 40: 204-210.
2. Hom G, Graham RR, Modrek B, Taylor KE, Ortmann W, et al. (2008) Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med 358: 900-909.
3. Han JW, Zheng HF, Cui Y, Sun LD, Ye DQ, 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.
4. Guerra SG, Vyse TJ, Cunninghame Graham DS (2012) The genetics of lupus: a functional perspective. Arthritis Res Ther 14: 211.
5. Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, et al. (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.
6. Cunninghame Graham DS, Morris DL, Bhangale TR, Criswell LA, Syvanen AC, et al. (2011) Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus. PLoS Genet 7: e1002341.
7. Bentham J, Vyse TJ (2013) The development of genome-wide association studies and their application to complex diseases, including lupus. Lupus 22: 1205 -1213.
8. Costa-Reis P, Sullivan KE (2013) Genetics and epigenetics of systemic lupus erythematosus. Curr Rheumatol Rep 15: 369.
9. Rullo OJ, Tsao BP (2013) Recent insights into the genetic basis of systemic lupus erythematosus. Ann Rheum Dis 72 Suppl 2: ii56-61.
10. Cui Y, Sheng Y, Zhang X (2013) Genetic susceptibility to SLE: recent progress from GWAS. J Autoimmun 41: 25-33.
11. Ramos PS, Shaftman SR, Ward RC, Langefeld CD (2014) Genes associated with SLE are targets of recent positive selection. Autoimmune Dis 2014: 203435, http://dx.doi.org/10.1155/2014/203435.
12. Savitsky D, Tamura T, Yanai H, Taniguchi T (2010) Regulation of immunity and oncogenesis by the IRF transcription factor family. Cancer Immunol Immunother 59: 489-510.
13. Kyogoku C, Tsuchiya N (2007) A compass that points to lupus: genetic studies on type I interferon pathway. Genes Immun 8: 445-455.
14. Bronson PG, Chaivorapol C, Ortmann W, Behrens TW, Graham RR (2012) The genetics of type I interferon in systemic lupus erythematosus. Curr Opin Immunol 24: 530-537.
15. Fu Q Zhao J, Qian X, Wong JL, Kaufman KM, et al. (2011) Association of a functional IRF7 variant with systemic lupus erythematosus. Arthritis Rheum 63: 749-754.
16. Lessard CJ, Adrianto I, Ice JA, Wiley GB, Kelly JA, et al. (2012) Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study. Am J Hum Genet 90: 648-660.
17. Kawasaki A, Kyogoku C, Ohashi J, Miyashita R, Hikami K, et al. (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.
18. Lohoff M, Mak TW (2005) Roles of interferon-regulatory factors in T-helper-cell differentiation. Nat Rev Immunol 5: 125-135.
19. Gao PS, Leung DY, Rafaels NM, Boguniewicz M, Hand T, et al. (2012) Genetic variants in interferon regulatory factor 2 (IRF2) are associated with atopic dermatitis and eczema herpeticum. J Invest Dermatol 132: 650 -657.
20. Ramos PS, Kelly JA, Gray-McGuire C, Bruner GR, Leiran AN, et al. (2006) Familial aggregation and linkage analysis of auto antibody traits in pedigrees multiplex for systemic lupus erythematosus. Genes Immun 7: 417-432.
21. Ramos P, Graham RR, Rao S, Gillett CD, Ortmann WA, et al. (2006) Association studies of interferon regulatory factor 2 with systemic lupus erythematosus (Abstract $1086). Presented at the 2006 American College of Rheumatology Annual Scientific Meeting. November 13, 2006, Washington DC.
22. Hochberg MC (1997) Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 40: 1725.
23. Nishida N, Tanabe T, Takasu M, Suyama A, Tokunaga K (2007) Further development of multiplex single nucleotide polymorphism typing method, the DigiTag2 assay. Anal Biochem 364: 78-85.
24. Cha Y, Deisseroth AB (1994) Human interferon regulatory factor 2 gene. Intron-exon organization and functional analysis of 5'-flanking region. J Biol Chem 269: 5279-5287.
25. Deb A, Haque SJ, Mogensen T, Silverman RH, Williams BR (2001) RNA-dependent protein kinase PKR is required for activation of NF-kappa B by IFN-gamma in a STAT1-independent pathway. J Immunol 166: 6170-6180.
26. Gateva V, Sandling JK, Hom G, Taylor KE, Chung SA, et al. (2009) A largescale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet 41: 1228-1233.
27. Musone SL, Taylor KE, Lu TT, Nititham J, Ferreira RC, et al. (2008) Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. Nat Genet 40: 1062-1064.
28. Fairfax BP, Makino S, Radhakrishnan J, Plant K, Leslie S, et al. (2012) Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles. Nat Genet 44: 502-510.
29. Hida S, Ogasawara K, Sato K, Abe M, Takayanagi H, et al. (2000) CD8(+) T cell-mediated skin disease in mice lacking IRF-2, the transcriptional attenuator of interferon-alpha/beta signaling. Immunity 13: 643-655.
30. Weckerle CE, Franck BS, Kelly JA, Kumabe M, Mikolaitis RA, et al. (2011) Network analysis of associations between serum interferon-α activity, autoantibodies, and clinical features in systemic lupus erythematosus. Arthritis Rheum 63: 1044-1053.
31. Lohoff M, Duncan GS, Ferrick D, Mittrücker HW, Bischof S, et al. (2000) Deficiency in the transcription factor interferon regulatory factor (IRF)-2 leads to severely compromised development of natural killer and T helper type 1 cells. J Exp Med 192: 325-336.
32. Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, et al. (2007) STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 357: 977-986.
33. Jiang DK, Sun J, Cao G, Liu Y, Lin D, et al. (2013) Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma. Nat Genet 45: 72-75.
34. Harigai M, Kawamoto M, Hara M, Kubota T, Kamatani N, et al. (2008) Excessive production of IFN-gamma in patients with systemic lupus erythema- tosus and its contribution to induction of B lymphocyte stimulator/B cell-activating factor/TNF ligand superfamily-13B. J Immunol 181: 2211-2219.
35. Karonitsch T, Feierl E, Steiner CW, Dalwigk K, Korb A, et al. (2009) Activation of the interferon-gamma signaling pathway in systemic lupus erythematosus peripheral blood mononuclear cells. Arthritis Rheum 60: 1463-1471.
36. Haas C, Ryffel B, Le Hir M (1998) IFN-gamma receptor deletion prevents autoantibody production and glomerulonephritis in lupus-prone (NZB x NZW)F1 mice. J Immunol 160: 3713-3718.
37. Jacob CO, van der Meide PH, McDevitt HO (1987) In vivo treatment of (NZB X NZW)F1 lupus-like nephritis with monoclonal antibody to gamma interferon. J Exp Med 166: 798-803.
38. Masutani K, Akahoshi M, Tsuruya K, Tokumoto M, Ninomiya T, et al. (2001) Predominance of Th1 immune response in diffuse proliferative lupus nephritis. Arthritis Rheum 44: 2097-2106.
39. Murata H, Matsumura R, Koyama A, Sugiyama T, Sueishi M, et al. (2002) T cell receptor repertoire of T cells in the kidneys of patients with lupus nephritis. Arthritis Rheum 46: 2141-2147.
40. Hikami K, Kawasaki A, Ito I, Koga M, Ito S, et al. (2011) Association of a functional polymorphism in the 3' untranslated region of SPI1 with systemic lupus erythematosus. Arthritis Rheum 63: 755-763.
41. Huang W, Horvath E, Eklund EA (2007) PU.1, interferon regulatory factor (IRF) 2, and the interferon consensus sequence-binding protein (ICSBP/IRF8) cooperate to activate NF1 transcription in differentiating myeloid cells. J Biol Chem 282: 6629-6643.