Human SNP links differential outcomes in inflammatory and infectious disease to a FOXO3-regulated pathway

Cell. 2013 Sep 26;155(1):57-69. doi: 10.1016/j.cell.2013.08.034. Epub 2013 Sep 12.

Abstract

The clinical course and eventual outcome, or prognosis, of complex diseases varies enormously between affected individuals. This variability critically determines the impact a disease has on a patient's life but is very poorly understood. Here, we exploit existing genome-wide association study data to gain insight into the role of genetics in prognosis. We identify a noncoding polymorphism in FOXO3A (rs12212067: T > G) at which the minor (G) allele, despite not being associated with disease susceptibility, is associated with a milder course of Crohn's disease and rheumatoid arthritis and with increased risk of severe malaria. Minor allele carriage is shown to limit inflammatory responses in monocytes via a FOXO3-driven pathway, which through TGFβ1 reduces production of proinflammatory cytokines, including TNFα, and increases production of anti-inflammatory cytokines, including IL-10. Thus, we uncover a shared genetic contribution to prognosis in distinct diseases that operates via a FOXO3-driven pathway modulating inflammatory responses.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Arthritis, Rheumatoid / genetics*
  • Arthritis, Rheumatoid / physiopathology
  • Cell Nucleus / metabolism
  • Crohn Disease / genetics*
  • Crohn Disease / physiopathology
  • Extracellular Matrix Proteins / immunology
  • Forkhead Box Protein O3
  • Forkhead Transcription Factors / genetics*
  • Forkhead Transcription Factors / metabolism
  • Genetic Variation
  • Humans
  • Inflammation / genetics
  • Malaria, Falciparum / genetics*
  • Malaria, Falciparum / physiopathology
  • Mice
  • Monocytes / immunology
  • Polymorphism, Single Nucleotide*
  • Transcription, Genetic
  • Transforming Growth Factor beta / immunology

Substances

  • Extracellular Matrix Proteins
  • FOXO3 protein, human
  • Forkhead Box Protein O3
  • Forkhead Transcription Factors
  • Transforming Growth Factor beta
  • betaIG-H3 protein