Coordination of retrotransposons and type I interferon with distinct interferon pathways in dermatomyositis, systemic lupus erythematosus and autoimmune blistering disease

Sci Rep. 2021 Nov 30;11(1):23146. doi: 10.1038/s41598-021-02522-6.


Type I interferon (IFN) plays a crucial role in innate and adaptive immunity, and aberrant IFN responses are involved in systemic autoimmune diseases, such as systemic lupus erythematosus (SLE) and dermatomyositis (DM). Type I IFNs can be induced by transcribed retrotransposons. The regulation of retrotransposons and type I IFN and the downstream IFN pathways in SLE, DM, and autoimmune blistering disease (AIBD) were investigated. The gene expression levels of retrotransposons, including LINE-1, type I-III IFNs, and IFN-stimulated genes (ISGs) in peripheral blood cells from patients with DM (n = 24), SLE (n = 19), AIBD (n = 14) and healthy controls (HCs, n = 10) were assessed by quantitative polymerase chain reaction. Upregulation of retrotransposons and IFNs was detected in DM patient samples, as is characteristic, compared to HCs; however, ISGs were not uniformly upregulated. In contrast, retrotransposons and IFNs, except for type II IFN, such as IFN-γ, were not upregulated in SLE. In AIBD, only some retrotransposons and type I interferons were upregulated. The DM, SLE, and AIBD samples showed coordinated expression of retrotransposons and type I IFNs and distinct spectra of IFN signaling. A positive correlation between LINE-1 and IFN-β1 was also detected in human cell lines. These factors may participate in the development of these autoimmune diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptive Immunity
  • Adult
  • Aged
  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / immunology*
  • Cell Line
  • DNA Methylation
  • Dermatomyositis / genetics
  • Dermatomyositis / immunology*
  • Female
  • Gene Expression Profiling
  • Gene Expression Regulation
  • Humans
  • Interferon Type I / genetics*
  • Long Interspersed Nucleotide Elements
  • Lupus Erythematosus, Systemic / genetics
  • Lupus Erythematosus, Systemic / immunology*
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic
  • RNA, Messenger / metabolism
  • Retroelements*
  • Rheumatic Diseases / metabolism
  • Signal Transduction


  • Interferon Type I
  • RNA, Messenger
  • Retroelements