Association between IRF5 polymorphisms and autoimmune diseases: A meta-analysis

Genetics and Molecular Research

Volumn 13, Issue 2, 2014, Pages 4473-4485

  Tang, L ^a   Chen, B ^b   Ma, B ^c   Nie, S ^d  

^a CHANGSHA MEDICAL UNIVERSITY   (China)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^c Yunnan Walvax Biotech Co Ltd   (China)

^d KUNMING MEDICAL UNIVERSITY   (China)

Author keywords

Autoimmune diseases; IRF5; Meta analysis

Indexed keywords

INTERFERON REGULATORY FACTOR 5; INTERFERON REGULATORY FACTOR; IRF5 PROTEIN, HUMAN;

AFRICAN AMERICAN; ARTICLE; ASIAN; AUTOIMMUNE DISEASE; CAUCASIAN; DISEASE PREDISPOSITION; ETHNICITY; EXON; GENETIC ASSOCIATION; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HUMAN; JUVENILE RHEUMATOID ARTHRITIS; MULTIPLE SCLEROSIS; PUBLISHING; RHEUMATOID ARTHRITIS; SENSITIVITY ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMATIC REVIEW; SYSTEMIC LUPUS ERYTHEMATOSUS; SYSTEMIC SCLEROSIS; BIBLIOGRAPHIC DATABASE; CLASSIFICATION; GENETIC PREDISPOSITION; GENETICS; META ANALYSIS; PATHOLOGY;

AUTOIMMUNE DISEASES; DATABASES, BIBLIOGRAPHIC; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; INTERFERON REGULATORY FACTORS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; SCLERODERMA, SYSTEMIC;

EID: 84902481594     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/2014.June.16.6     Document Type: Article

References (41)

1. Banchereau J and Pascual V (2006). Type I interferon in systemic lupus erythematosus and other autoimmune diseases. Immunity 25: 383-392.
2. Cunninghame Graham DS, Manku H, Wagner S, Reid J, et al. (2007). Association of IRF5 in UK SLE families identifies a variant involved in polyadenylation. Hum. Mol. Genet. 16: 579-591.
3. Dawidowicz K, Allanore Y, Guedj M, Pierlot C, et al. (2011). The interferon regulatory factor 5 gene confers susceptibility to rheumatoid arthritis and influences its erosive phenotype. Ann. Rheum. Dis. 70: 117-121.
4. Demirci FY, Manzi S, Ramsey-Goldman R, Minster RL, et al. (2007). Association of a common interferon regulatory factor 5 (IRF5) variant with increased risk of systemic lupus erythematosus (SLE). Ann. Hum. Genet. 71: 308-311.
5. Dideberg V, Kristjansdottir G, Milani L, Libioulle C, 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.
6. Dieguez-Gonzalez R, Calaza M, Perez-Pampin E, de la Serna AR, et al. (2008). Association of interferon regulatory factor 5 haplotypes, similar to that found in systemic lupus erythematosus, in a large subgroup of patients with rheumatoid arthritis. Arthritis Rheum. 58: 1264-1274.
7. Dieude P, Guedj M, Wipff J, Avouac J, et al. (2009). Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis. Arthritis Rheum. 60: 225-233.
8. Dieude P, Dawidowicz K, Guedj M, Legrain Y, et al. (2010). Phenotype-haplotype correlation of IRF5 in systemic sclerosis: role of 2 haplotypes in disease severity. J. Rheumatol. 37: 987-992.
9. Ferreiro-Neira I, Calaza M, Alonso-Perez E, Marchini M, et al. (2007). Opposed independent effects and epistasis in the complex association of IRF5 to SLE. Genes Immun. 8: 429-438.
10. Garnier S, Dieudé P, Michou L, Barbet S, et al. (2007). IRF5 rs2004640-T allele, the new genetic factor for systemic lupus erythematosus, is not associated with rheumatoid arthritis. Ann. Rheum. Dis. 66: 828-831.
11. Graham RR, Kozyrev SV, Baechler EC, Reddy MV, 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.
12. Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, et al. (2007). Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc. Natl. Acad. Sci. U. S. A. 104: 6758-6763.
13. Han SW, Lee WK, Kwon KT, Lee BK, et al. (2009). Association of polymorphisms in interferon regulatory factor 5 gene with rheumatoid arthritis: a meta-analysis. J. Rheumatol. 36: 693-697.
14. Hellquist A, Järvinen TM, Koskenmies S, Zucchelli M, et al. (2009). Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus. J. Rheumatol. 36: 1631-1638.
15. Hu W and Ren H (2011). A meta-analysis of the association of IRF5 polymorphism with systemic lupus erythematosus. Int. J. Immunogenet. 38: 411-417.
16. Ito I, Kawaguchi Y, Kawasaki A, Hasegawa M, et al. (2009). Association of a functional polymorphism in the IRF5 region with systemic sclerosis in a Japanese population. Arthritis Rheum. 60: 1845-1850.
17. Kawasaki A, Kyogoku C, Ohashi J, Miyashita R, 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. Kelly JA, Kelley JM, Kaufman KM, Kilpatrick J, et al. (2008). Interferon regulatory factor-5 is genetically associated with systemic lupus erythematosus in African Americans. Genes Immun. 9: 187-194.
19. Kim YJ, Park JH, Kim I, Kim JO, et al. (2008). Putative role of functional interferon regulatory factor 5 (IRF5) polymorphism in rheumatoid arthritis in a Korean population. J. Rheumatol. 35: 2106-2118.
20. Kozyrev SV, Lewén S, Reddy L, Pons-Estel B, et al. (2007). Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus. Arthristis Rheum. 56: 1234-1241.
21. Kristjansdottir G, Sandling JK, Bonetti A, Roos IM, et al. (2008). Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations. J. Med. Genet. 45: 362-369.
22. Lee YH and Song GG (2009). Association between the rs2004640 functional polymorphism of interferon regulatory factor 5 and systemic lupus erythematosus: a meta-analysis. Rheumatol. Int. 29: 1137-1142.
23. Löfgren SE, Yin H, Delgado-Vega AM, Sanchez E, et al. (2010). Promoter insertion/deletion in the IRF5 gene is highly associated with susceptibility to systemic lupus erythematosus in distinct populations, but exerts a modest effect on gene expression in peripheral blood mononuclear cells. J. Rheumatol. 37: 574-578.
24. Maalej A, Hamad MB, Rebaï A, Teixeira VH, et al. (2008). Association of IRF5 gene polymorphisms with rheumatoid arthritis in a Tunisian population. Scand. J. Rheumatol. 37: 414-418.
25. Miceli-Richard C, Comets E, Loiseau P, Puechal X, et al. (2007). Association of an IRF5 gene functional polymorphism with Sjogren's syndrome. Arthritis Rheum. 56: 3989-3994.
26. Niewold TB, Kelly JA, Flesch MH, Espinoza LR, et al. (2008). Association of the IRF5 risk haplotype with high serum interferon-alpha activity in systemic lupus erythematosus patients. Arthritis Rheum. 58: 2481-2487.
27. Nordang GB, Viken MK, Amundsen SS, Sanchez ES, et al. (2011). Interferon regulatory factor 5 gene polymorphism confers risk to several rheumatic diseases and correlates with expression of alternative thymic transcripts. Rheumatology 51: 619-626.
28. Qin L, Lv J, Zhou X, Hou P, et al. (2010). Association of IRF5 gene polymorphisms and lupus nephritis in a Chinese population. Nephrology 15: 710-713.
29. Qu HQ, Marchand L, Grabs R and Polychronakos C (2007). The IRF5 polymorphism in type 1 diabetes. J. Med. Genet. 44: 670-672.
30. Reddy MV, Velázquez-Cruz R, Baca V, Lima G, et al. (2007). Genetic association of IRF5 with SLE in Mexicans: higher frequency of the risk haplotype and its homozygozity than Europeans. Hum. Genet. 121: 721-727.
31. Rueda B, Reddy MV, González-Gay MA, Balsa A, et al. (2006). Analysis of IRF5 gene functional polymorphisms in rheumatoid arthritis. Arthritis Rheum. 54: 3815-3819.
32. Shimane K, Kochi Y, Yamada R, Okada Y, et al. (2009). A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population. Ann. Rheum. Dis. 68: 377-383.
33. Shin HD, Sung YK, Choi CB, Lee SO, et al. (2007). Replication of the genetic effects of IFN regulatory factor 5 (IRF5) on systemic lupus erythematosus in a Korean population. Arthritis Res. Ther. 9: R32.
34. Sigurdsson S, Nordmark G, Göring HH, Lindroos K, 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.
35. Sigurdsson S, Göring HH, Kristjansdottir G, Milani L, 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.
36. Siu HO, Yang W, Lau CS, Chan TM, et al. (2008). Association of a haplotype of IRF5 gene with systemic lupus erythematosus in Chinese. J. Rheumatol. 35: 360-362.
37. Song WQ, Li HH, Chen HB, Yuan JS, et al. (2009). Relationship between polymorphism sites of IRF5, TLR-9 and SLE patients in Shandong Han population. Zhonghua Yi Xue Za Zhi 89: 3038-3042.
38. Tsonis IA, Avrameas S and Moutsopoulos HM (2007). Autoimmunity and pathophysiology. J. Autoimmun. 29: 203-205.
39. Vuong MT, Gunnarsson I, Lundberg S, Svenungsson E, et al. (2010). Genetic risk factors in lupus nephritis and IgA nephropathy-no support of an overlap. PLoS One 5: e10559.
40. Wieczorek S, Holle JU, Muller S, Fricke H, et al. (2010). A functionally relevant IRF5 haplotype is associated with reduced risk to Wegener's granulomatosis. J. Mol. Med. 88: 413-421.
41. Yanagimachi M, Naruto T, Miyamae T, Hara T, et al. (2011). Association of IRF5 polymorphisms with susceptibility to macrophage activation syndrome in patients with juvenile idiopathic arthritis. J. Rheumatol. 38: 769-774.