3.2.3. IRF7 and SLE. SLE is characterized by the production of a variety of autoantibodies, complement activation and immune complex deposition, resulting in tissue and organ damage. Accumulating evidence implies that IRF7 is a susceptibility locus for SLE.

Systemic lupus erythematosus is an autoimmune disease attributing to a combination of genetic and environmental factors. Abnormal expression/function of type I interferons has been demonstrated with the pathogenesis of SLE, especially IFN-α, which can be regulated by IFN regulatory factor 7 (IRF7). …

We showed that the major allele of a nonsynonymous SNP rs1131665 (412Q) in IRF7 confers elevated IRF7 activation and predisposes to the development of SLE in multiple ethnic groups. This result provides direct genetic evidence supporting IRF7 may be a risk gene for human SLE.

Studies on IRF7 in human SLE have expanded in the last few years due to its role in IFN expression. Indeed, genetic variants of IRF7 were shown to be associated with increased serum IFNα levels in SLE patients with anti-Sm and anti-dsDNA autoantibodies [ 116 ].

Sep 15, 2016 · Recent genetic studies of SLE patients have revealed that IFN regulatory factor (IRF) 7 gene polymorphisms are associated with an increased risk of SLE, but the precise role of IRF7 in SLE development is not fully understood.

IRF7 genomic region polymorphisms or dysregulated IRF7 expression has been described in systemic lupus erythematosus (SLE) patients (35, 36), and a strong connection between SLE and the SNP rs4963128, 23-kb telomeric to IRF7 was found in a genome-wide association study .

Apr 10, 2025 · The results of this study further confirm the role of IRF7 in the pathogenesis of SLE and pSS, in addition to MCTD. The study aimed to investigate cellular communication within PBMCs through ligand-receptor interactions, which revealed an increased IFN-II signaling network, with monocytes as the recipient cells in MCTD, SLE, and pSS. ...

Jun 1, 2012 · IRF7-mediated immunity plays an important role in onset of SLE. Gene polymorphisms near/in IRF7 are crucial in the pathogenesis of SLE. Regulation of IRF7 expression shows a significant role in SLE. Further investigations are still needed to establish the accurate role of IRF7.

May 1, 2022 · Our findings suggest a genotype-dependent mechanism for lupus risk variants in IRF7 in promoting exaggerated IFN production in SLE. These experiments would not have been possible with out NIH NIAMS R01 AR073228. Abstract.

Feb 8, 2025 · How IRF7 promotes autoimmune B cell responses and systemic autoimmunity is unclear. Analysis of spontaneous SLE-prone mice deficient in IRF7 uncovered the IRF7 role in regulating autoimmune germinal center (GC), plasma …