Eotaxin-3 and a uniquely conserved gene-expression profile in eosinophilic esophagitis

J Clin Invest. 2006 Feb;116(2):536-47. doi: 10.1172/JCI26679.

Abstract

Eosinophilic esophagitis (EE) is an emerging disorder with a poorly understood pathogenesis. In order to define disease mechanisms, we took an empirical approach analyzing esophageal tissue by a genome-wide microarray expression analysis. EE patients had a striking transcript signature involving 1% of the human genome that was remarkably conserved across sex, age, and allergic status and was distinct from that associated with non-EE chronic esophagitis. Notably, the gene encoding the eosinophil-specific chemoattractant eotaxin-3 (also known as CCL26) was the most highly induced gene in EE patients compared with its expression level in healthy individuals. Esophageal eotaxin-3 mRNA and protein levels strongly correlated with tissue eosinophilia and mastocytosis. Furthermore, a single-nucleotide polymorphism in the human eotaxin-3 gene was associated with disease susceptibility. Finally, mice deficient in the eotaxin receptor (also known as CCR3) were protected from experimental EE. These results implicate eotaxin-3 as a critical effector molecule for EE and provide insight into disease pathogenesis.

Publication types

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

MeSH terms

  • Animals
  • Biopsy
  • Chemokine CCL26
  • Chemokines, CC / genetics
  • Chemokines, CC / metabolism*
  • Child
  • Eosinophilia / genetics*
  • Eosinophilia / metabolism
  • Eosinophilia / pathology
  • Esophagitis / genetics*
  • Esophagitis / metabolism
  • Esophagitis / pathology
  • Female
  • Gene Expression Profiling*
  • Gene Frequency
  • Genotype
  • Humans
  • Male
  • Mastocytosis / genetics
  • Mastocytosis / metabolism
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide

Substances

  • CCL26 protein, human
  • Chemokine CCL26
  • Chemokines, CC