Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease

Nature. 2009 Apr 23;458(7241):1039-42. doi: 10.1038/nature07811. Epub 2009 Feb 25.

Abstract

Lung disease is the major cause of morbidity and mortality in cystic fibrosis, an autosomal recessive disease caused by mutations in CFTR. In cystic fibrosis, chronic infection and dysregulated neutrophilic inflammation lead to progressive airway destruction. The severity of cystic fibrosis lung disease has considerable heritability, independent of CFTR genotype. To identify genetic modifiers, here we performed a genome-wide single nucleotide polymorphism scan in one cohort of cystic fibrosis patients, replicating top candidates in an independent cohort. This approach identified IFRD1 as a modifier of cystic fibrosis lung disease severity. IFRD1 is a histone-deacetylase-dependent transcriptional co-regulator expressed during terminal neutrophil differentiation. Neutrophils, but not macrophages, from Ifrd1-deficient mice showed blunted effector function, associated with decreased NF-kappaB p65 transactivation. In vivo, IFRD1 deficiency caused delayed bacterial clearance from the airway, but also less inflammation and disease-a phenotype primarily dependent on haematopoietic cell expression, or lack of expression, of IFRD1. In humans, IFRD1 polymorphisms were significantly associated with variation in neutrophil effector function. These data indicate that IFRD1 modulates the pathogenesis of cystic fibrosis lung disease through the regulation of neutrophil effector function.

Publication types

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

MeSH terms

  • Animals
  • Cells, Cultured
  • Cohort Studies
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / pathology*
  • Disease Models, Animal
  • Genotype
  • Humans
  • Immediate-Early Proteins / deficiency
  • Immediate-Early Proteins / genetics*
  • Inflammation / genetics
  • Inflammation / pathology
  • Mice
  • Mice, Inbred C57BL
  • Neutrophils / immunology
  • Neutrophils / metabolism
  • Polymorphism, Single Nucleotide / genetics
  • Pseudomonas aeruginosa / immunology
  • Pseudomonas aeruginosa / pathogenicity
  • Transcription Factor RelA / metabolism

Substances

  • IFRD1 protein, human
  • Immediate-Early Proteins
  • Transcription Factor RelA