Transcription factors operate across disease loci, with EBNA2 implicated in autoimmunity

Nat Genet. 2018 May;50(5):699-707. doi: 10.1038/s41588-018-0102-3. Epub 2018 Apr 16.

Abstract

Explaining the genetics of many diseases is challenging because most associations localize to incompletely characterized regulatory regions. Using new computational methods, we show that transcription factors (TFs) occupy multiple loci associated with individual complex genetic disorders. Application to 213 phenotypes and 1,544 TF binding datasets identified 2,264 relationships between hundreds of TFs and 94 phenotypes, including androgen receptor in prostate cancer and GATA3 in breast cancer. Strikingly, nearly half of systemic lupus erythematosus risk loci are occupied by the Epstein-Barr virus EBNA2 protein and many coclustering human TFs, showing gene-environment interaction. Similar EBNA2-anchored associations exist in multiple sclerosis, rheumatoid arthritis, inflammatory bowel disease, type 1 diabetes, juvenile idiopathic arthritis and celiac disease. Instances of allele-dependent DNA binding and downstream effects on gene expression at plausibly causal variants support genetic mechanisms dependent on EBNA2. Our results nominate mechanisms that operate across risk loci within disease phenotypes, suggesting new models for disease origins.

Publication types

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

MeSH terms

  • Autoimmunity / genetics
  • Cell Line
  • Cell Line, Tumor
  • DNA-Binding Proteins / genetics
  • Epstein-Barr Virus Nuclear Antigens / genetics*
  • Epstein-Barr Virus Nuclear Antigens / immunology*
  • Herpesvirus 4, Human / genetics
  • Humans
  • Lupus Erythematosus, Systemic / genetics
  • Maximum Tolerated Dose
  • Neoplasms / genetics
  • Phenotype
  • Protein Binding
  • Regulatory Sequences, Nucleic Acid
  • Transcription Factors / genetics*
  • Viral Proteins / genetics*
  • Viral Proteins / immunology*

Substances

  • DNA-Binding Proteins
  • EBNA-2 protein, Human herpesvirus 4
  • Epstein-Barr Virus Nuclear Antigens
  • Transcription Factors
  • Viral Proteins