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Abstract
Recently much attention was attracted to the importance of the type I interferon pathway in the initiation and development of the autoimmune disease systemic lupus erythematosus (SLE). Many SLE patients have increased serum levels of IFN-α and display an IFN gene expression “signature” characterized by strong overexpression of IFN-responsive genes in leukocytes and target tissues. Moreover, about 20% of cancer patients treated with IFN-α therapy manifest symptoms resembling SLE and some later develop the disease. One of the key genes of the IFN-α pathway, IRF5, was found to be strongly associated with SLE. Two functional SNPs lead to alternative splicing and altered steady-state level of IRF5 gene expression. Besides, the gene has a polymorphic inserion/deletion in exon 6, which contributes to the diversity in the isoform pattern of IRF5. Interestingly, recent studies have not found association of IRF5 with the other autoimmune diseases, such as rheumatoid arthritis or psoriasis, suggesting the unique role for IRF5 in the development of lupus. Here, we present the current knowledge on IRF5 genetics and its biological function and discuss the possible ways in which IRF5 contributes to susceptibility to SLE.
| Abbreviations | ||
| SLE | = | systemic lupus erythematosus |
| IFN | = | interferon |
| pDC | = | plasmacytoid dendritic cells |
| TLR | = | toll-like receptor |
| PBMC | = | perhipheral blood mononuclear cells |
| RA | = | rheumatoid arthritis |
| CML | = | chronic myeloid leukemia |
| ALL | = | acute lymphoblastoid leukemia |
| AML | = | acute myeloid leukemia |
| IRF5 | = | interferon regulatory factor 5 |
| SNP | = | single nucleotide polymorphism |
| UTR | = | untranslated region |
| ISRE | = | IFN-stimulated response element |
| LPS | = | lipopolysaccharides |
| ODN | = | oligodeoxynucleotide |
| Abbreviations | ||
| SLE | = | systemic lupus erythematosus |
| IFN | = | interferon |
| pDC | = | plasmacytoid dendritic cells |
| TLR | = | toll-like receptor |
| PBMC | = | perhipheral blood mononuclear cells |
| RA | = | rheumatoid arthritis |
| CML | = | chronic myeloid leukemia |
| ALL | = | acute lymphoblastoid leukemia |
| AML | = | acute myeloid leukemia |
| IRF5 | = | interferon regulatory factor 5 |
| SNP | = | single nucleotide polymorphism |
| UTR | = | untranslated region |
| ISRE | = | IFN-stimulated response element |
| LPS | = | lipopolysaccharides |
| ODN | = | oligodeoxynucleotide |
Acknowledgements
The work described in this review has been supported by grants from the Gurli and Edward Brunnbergs Foundation for rheumatologic research to SVK and the Swedish Research Council, the Swedish Association Against Rheumatism, the Gustaf Vth: 80 th Jubilee, the Magnus Bergvalls Foundation, the Torsten and Ragnar Söderbergs Foundation and the Marcus Borgströms Foundation to MEAR. Marta Alarcón-Riquelme is supported by the Knut and Alice Wallenberg Foundation through an award from the Royal Swedish Academy of Sciences.