Common variants at 5q22 associate with pediatric eosinophilic esophagitis

Nat Genet. 2010 Apr;42(4):289-91. doi: 10.1038/ng.547. Epub 2010 Mar 7.

Abstract

Eosinophilic esophagitis (EoE) is an allergic disorder characterized by the accumulation of eosinophils in the esophagus. We report association of EoE with variants at chromosome 5q22 encompassing TSLP and WDR36 (rs3806932, combined P = 3.19 x 10(-9)). TSLP is overexpressed in esophageal biopsies from individuals with EoE compared with unaffected individuals, whereas WDR36 expression is unaltered between the two groups. These data implicate the 5q22 locus in the pathogenesis of EoE and identify TSLP as the most likely candidate gene in the region.

Publication types

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

MeSH terms

  • Child
  • Chromosomes, Human, Pair 5*
  • Cytokines / genetics*
  • Eosinophils / pathology*
  • Esophagitis / genetics*
  • Esophagitis / pathology
  • Eye Proteins / genetics
  • Genome-Wide Association Study
  • Humans
  • Polymorphism, Single Nucleotide

Substances

  • Cytokines
  • Eye Proteins
  • WDR36 protein, human
  • thymic stromal lymphopoietin