Transcriptome analysis of ankylosing spondylitis patients before and after TNF-α inhibitor therapy reveals the pathways affected

Genes Immun. 2017 Sep;18(3):184-190. doi: 10.1038/gene.2017.19. Epub 2017 Aug 24.

Abstract

Tumor necrosis factor-α (TNF-α) inhibitors are highly effective in suppressing inflammation in ankylosing spondylitis (AS) patients, and operate by suppression of TFN-α and downstream immunological pathways. To determine the mechanisms of action of TNF-α inhibitors in AS patients, we used transcriptomic and bioinformatic approaches on peripheral blood mononuclear cells from AS patients pre and post treatment. We found 656 differentially expressed genes, including the genome-wide significant AS-associated genes, IL6R, NOTCH1, IL10, CXCR2 and TNFRSF1A. A distinctive gene expression profile was found between male and female patients, mainly because of sex chromosome-linked genes and interleukin 17 receptor C, potentially accounting for the differences in clinical manifestation and treatment response between the genders. In addition to immune and inflammation regulatory pathways, like intestinal immune network for IgA production, cytokine-cytokine receptor interaction, Ras signaling pathway, allograft rejection and hematopoietic cell lineage, KEGG (Kyoto Encyclopedia of Genes and Genomes) pathway analyses revealed that infection-associated pathways (influenza A and toxoplasmosis) and metabolism-associated pathways were involved in response to TNF-α inhibitor treatment, providing insight into the mechanism of TNF-α inhibitors.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Gene Expression Profiling
  • Humans
  • Interleukin-10 / genetics
  • Interleukin-10 / metabolism
  • Male
  • Middle Aged
  • Receptor, Notch1 / genetics
  • Receptor, Notch1 / metabolism
  • Receptors, Interleukin-6 / genetics
  • Receptors, Interleukin-6 / metabolism
  • Receptors, Interleukin-8B / genetics
  • Receptors, Interleukin-8B / metabolism
  • Receptors, Tumor Necrosis Factor, Type I / genetics
  • Receptors, Tumor Necrosis Factor, Type I / metabolism
  • Spondylitis, Ankylosing / drug therapy
  • Spondylitis, Ankylosing / genetics*
  • Spondylitis, Ankylosing / metabolism
  • Transcriptome*
  • Tumor Necrosis Factor-alpha / antagonists & inhibitors*

Substances

  • IL10 protein, human
  • IL6R protein, human
  • NOTCH1 protein, human
  • Receptor, Notch1
  • Receptors, Interleukin-6
  • Receptors, Interleukin-8B
  • Receptors, Tumor Necrosis Factor, Type I
  • TNFRSF1A protein, human
  • Tumor Necrosis Factor-alpha
  • Interleukin-10