Pathogenicity of a disease-associated human IL-4 receptor allele in experimental asthma

J Exp Med. 2009 Sep 28;206(10):2191-204. doi: 10.1084/jem.20091480. Epub 2009 Sep 21.

Abstract

Polymorphisms in the interleukin-4 receptor alpha chain (IL-4R alpha) have been linked to asthma incidence and severity, but a causal relationship has remained uncertain. In particular, a glutamine to arginine substitution at position 576 (Q576R) of IL-4R alpha has been associated with severe asthma, especially in African Americans. We show that mice carrying the Q576R polymorphism exhibited intense allergen-induced airway inflammation and remodeling. The Q576R polymorphism did not affect proximal signal transducer and activator of transcription (STAT) 6 activation, but synergized with STAT6 in a gene target- and tissue-specific manner to mediate heightened expression of a subset of IL-4- and IL-13-responsive genes involved in allergic inflammation. Our findings indicate that the Q576R polymorphism directly promotes asthma in carrier populations by selectively augmenting IL-4R alpha-dependent signaling.

Publication types

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

MeSH terms

  • Alleles
  • Animals
  • Asthma / etiology
  • Asthma / genetics*
  • Humans
  • Immunoglobulin E / biosynthesis
  • Interleukin-13 / physiology
  • Interleukin-4 / biosynthesis
  • Mice
  • Mice, Transgenic
  • Mutation
  • Ovalbumin / immunology
  • Polymorphism, Genetic
  • Receptors, Cell Surface / genetics*
  • STAT6 Transcription Factor / metabolism
  • Signal Transduction
  • Th2 Cells / immunology

Substances

  • Il4ra protein, mouse
  • Interleukin-13
  • Receptors, Cell Surface
  • STAT6 Transcription Factor
  • Interleukin-4
  • Immunoglobulin E
  • Ovalbumin