A gene network regulated by the transcription factor VGLL3 as a promoter of sex-biased autoimmune diseases

Nat Immunol. 2017 Feb;18(2):152-160. doi: 10.1038/ni.3643. Epub 2016 Dec 19.

Abstract

Autoimmune diseases affect 7.5% of the US population, and they are among the leading causes of death and disability. A notable feature of many autoimmune diseases is their greater prevalence in females than in males, but the underlying mechanisms of this have remained unclear. Through the use of high-resolution global transcriptome analyses, we demonstrated a female-biased molecular signature associated with susceptibility to autoimmune disease and linked this to extensive sex-dependent co-expression networks. This signature was independent of biological age and sex-hormone regulation and was regulated by the transcription factor VGLL3, which also had a strong female-biased expression. On a genome-wide level, VGLL3-regulated genes had a strong association with multiple autoimmune diseases, including lupus, scleroderma and Sjögren's syndrome, and had a prominent transcriptomic overlap with inflammatory processes in cutaneous lupus. These results identified a VGLL3-regulated network as a previously unknown inflammatory pathway that promotes female-biased autoimmunity. They demonstrate the importance of studying immunological processes in females and males separately and suggest new avenues for therapeutic development.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Cells, Cultured
  • Female
  • Gene Expression Profiling
  • Gene Regulatory Networks*
  • Genetic Association Studies
  • Genome-Wide Association Study
  • Humans
  • Keratinocytes / physiology*
  • Lupus Erythematosus, Cutaneous / genetics*
  • Male
  • Middle Aged
  • Quantitative Trait Loci
  • Scleroderma, Systemic / genetics*
  • Sex Factors*
  • Sjogren's Syndrome / genetics*
  • Skin / pathology*
  • Transcription Factors / genetics
  • Transcription Factors / metabolism*
  • Transcriptome
  • Young Adult

Substances

  • Transcription Factors
  • VGLL3 protein, human