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Interferon signaling gene expression, and DNA methylation interactions in Sjögren's disease via mendelian randomization - PubMed

7 hours ago
  • #DNA methylation
  • #Interferon signaling
  • #Sjögren's disease
  • Sjögren's disease (SD) is an autoimmune disorder with dysregulated interferon (IFN) signaling.
  • Study integrated transcriptomic, epigenomic, and genetic data using Mendelian randomization (SMR) and colocalization analyses.
  • Meta-analysis identified 331 differentially expressed IFN-associated genes enriched in immune cells.
  • SMR analysis identified five causal genes: SH2B3, LGALS9, CD40, GRB2, and DTX3L.
  • DNA methylation at specific CpG sites regulated SH2B3 and LGALS9 expression.
  • Colocalization showed interaction with inflammatory cytokines like CCL19, IL-2Rβ, IL-10, and CCL4.
  • ELISA validation confirmed elevated serum levels of these cytokines in SD patients.
  • Study highlights epigenetic regulation of IFN-associated genes and potential therapeutic targets.