scholarly journals Polymorphisms in the Tyrosine Kinase 2 and Interferon Regulatory Factor 5 Genes Are Associated with Systemic Lupus Erythematosus

2005 ◽  
Vol 76 (3) ◽  
pp. 528-537 ◽  
Author(s):  
Snaevar Sigurdsson ◽  
Gunnel Nordmark ◽  
Harald H.H. Göring ◽  
Katarina Lindroos ◽  
Ann-Christin Wiman ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Tyrosine Kinase ◽  
Lupus Erythematosus ◽  
Interferon Regulatory Factor ◽  
Regulatory Factor ◽  
Systemic Lupus ◽  
Interferon Regulatory Factor 5 ◽  
Tyrosine Kinase 2

scholarly journals Interferon Regulatory Factor 5 in the Pathogenesis of Systemic Lupus Erythematosus

2012 ◽  
Vol 2012 ◽  
pp. 1-11 ◽  
Author(s):  
Candace M. Cham ◽  
Kichul Ko ◽  
Timothy B. Niewold
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Immune Complexes ◽  
Interferon Regulatory Factor ◽  
Immune Defense ◽  
Toll Like Receptors ◽  
Regulatory Factor ◽  
Systemic Lupus ◽  
Interferon Regulatory Factor 5

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by multiple genetic risk factors, high levels of interferon alpha (IFN-α), and the production of autoantibodies against components of the cell nucleus. Interferon regulatory factor 5 (IRF5) is a transcription factor which induces the transcription of IFN-αand other cytokines, and genetic variants of IRF5 have been strongly linked to SLE pathogenesis. IRF5 functions downstream of Toll-like receptors and other microbial pattern-recognition receptors, and immune complexes made up of SLE-associated autoantibodies seem to function as a chronic endogenous stimulus to this pathway. In this paper, we discuss the physiologic role of IRF5 in immune defense and the ways in whichIRF5variants may contribute to the pathogenesis of human SLE. Recent data regarding the role ofIRF5in both serologic autoimmunity and the overproduction of IFN-αin human SLE are summarized. These data support a model in which SLE-risk variants of IRF5 participate in a “feed-forward” mechanism, predisposing to SLE-associated autoantibody formation, and subsequently facilitating IFN-αproduction downstream of Toll-like receptors stimulated by immune complexes composed of these autoantibodies.

Association between the interferon regulatory factor 5 rs2004640 functional polymorphism and systemic lupus erythematosus: an updated meta-analysis

Lupus ◽  
2019 ◽  
Vol 28 (6) ◽  
pp. 740-747
Author(s):  
S C Bae ◽  
Y H Lee
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Meta Analysis ◽  
Asian Population ◽  
Interferon Regulatory Factor ◽  
European Population ◽  
Regulatory Factor ◽  
Systemic Lupus ◽  
Interferon Regulatory Factor 5 ◽  
Study Participants

Objective The aim of this study is to determine whether the functional interferon regulatory factor 5 ( IRF5) polymorphism rs2004640 is associated with susceptibility to systemic lupus erythematosus (SLE) in multiple ethnic populations. Methods A meta-analysis was conducted on the T allele of the IRF5 rs2004640 polymorphism in all study participants as well as each ethnic population. Results Twenty research articles that included 28 comparative studies of 20,892 patients and 24,930 controls were included in the meta-analysis. The Asian population had a much lower prevalence of the T allele than any other study population at 28%, and the European population had the highest prevalence of the T allele at 52%. Meta-analysis showed an association between the IRF5 rs2004640 polymorphism and SLE in all participants (odds ratio = 1.472, 95% confidence interval = 1.370–1.582, p < 0.001). Analysis after stratification by ethnicity indicated that the IRF5 rs2004640 T allele is significantly associated with SLE in Europeans, Asians, Latin Americans and Arabs. Conclusions This meta-analysis confirms that the IRF5 rs2004640 polymorphism is associated with SLE susceptibility in different ethnic groups, and that its prevalence is ethnicity dependent.

Association of interferon regulatory factor 5 haplotypes, similar to that found in systemic lupus erythematosus, in a large subgroup of patients with rheumatoid arthritis

2008 ◽  
Vol 58 (5) ◽  
pp. 1264-1274 ◽  
Author(s):  
Rebeca Dieguez-Gonzalez ◽  
Manuel Calaza ◽  
Eva Perez-Pampin ◽  
Arturo Rodriguez de la Serna ◽  
Benjamin Fernandez-Gutierrez ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Interferon Regulatory Factor ◽  
Regulatory Factor ◽  
Systemic Lupus ◽  
Interferon Regulatory Factor 5 ◽  
Large Subgroup

Different Genetic Effects of Interferon Regulatory Factor 5 (IRF5) Polymorphisms on Systemic Lupus Erythematosus in a Korean Population

2008 ◽  
Vol 35 (11) ◽  
pp. 2148-2151 ◽  
Author(s):  
HYOUNG DOO SHIN ◽  
IL KIM ◽  
CHAN-BUM CHOI ◽  
SOO OK LEE ◽  
HYE WON LEE ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Asian Population ◽  
Interferon Regulatory Factor ◽  
Genetic Effects ◽  
Korean Population ◽  
Nucleotide Polymorphisms ◽  
Regulatory Factor ◽  
Systemic Lupus ◽  
Interferon Regulatory Factor 5

ObjectiveIn an effort to replicate additional associations of interferon regulatory factor 5 (IRF5) polymorphisms with systemic lupus erythematosus (SLE) in an Asian population, we examined those genetic effects in a Korean SLE cohort.MethodsEach IRF5 polymorphism was genotyped in 1565 subjects using the TaqMan method and examined to determine whether it could explain the association with SLE.ResultsThree single-nucleotide polymorphisms (IRF5-15-1, rs2070197, and rs10488631), which showed strong and/or independent association in Caucasian populations, were not polymorphic in our Korean population. Association analysis revealed different genetic effects in Koreans compared with Caucasian populations. In addition, conditional analysis suggested independent genetic effects of 3 variant groups in the Korean population.ConclusionWe demonstrate different genetic effects of IRF5 polymorphisms on the risk of SLE according to ethnicity.

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