Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease

Nat Genet. 2014 Aug;46(8):895-900. doi: 10.1038/ng.3033. Epub 2014 Jul 13.

Abstract

Eosinophilic esophagitis (EoE) is a chronic inflammatory disorder associated with allergic hypersensitivity to food. We interrogated >1.5 million genetic variants in EoE cases of European ancestry and subsequently in a multi-site cohort with local and out-of-study control subjects. In addition to replicating association of the 5q22 locus (meta-analysis P=1.9×10(-16)), we identified an association at 2p23 spanning CAPN14 (P=2.5×10(-10)). CAPN14 was specifically expressed in the esophagus, was dynamically upregulated as a function of disease activity and genetic haplotype and after exposure of epithelial cells to interleukin (IL)-13, and was located in an epigenetic hotspot modified by IL-13. Genes neighboring the top 208 EoE-associated sequence variants were enriched for esophageal expression, and multiple loci for allergic sensitization were associated with EoE susceptibility (4.8×10(-2)<P<5.1×10(-11)). We propose a model to explain the tissue-specific nature of EoE that involves the interplay of allergic sensitization with an EoE-specific, IL-13-inducible esophageal response involving CAPN14.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Calpain / genetics
  • Child
  • Child, Preschool
  • Eosinophilic Esophagitis / genetics*
  • Epithelial Cells / metabolism
  • Esophagus / metabolism
  • Female
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genome-Wide Association Study / methods
  • Genotype
  • Haplotypes
  • Humans
  • Interleukin-13 / genetics
  • Male
  • Meta-Analysis as Topic
  • Middle Aged
  • Models, Genetic
  • Organ Specificity / genetics
  • Up-Regulation
  • Young Adult

Substances

  • Interleukin-13
  • Calpain
  • CAPNS1 protein, human

Associated data

  • GEO/GSE58640
  • dbGaP/PHS000494.V1.P1