GWAS identifies four novel eosinophilic esophagitis loci

Nat Commun. 2014 Nov 19;5:5593. doi: 10.1038/ncomms6593.

Abstract

Eosinophilic esophagitis (EoE) is an allergic disorder characterized by infiltration of the oesophagus with eosinophils. We had previously reported association of the TSLP/WDR36 locus with EoE. Here we report genome-wide significant associations at four additional loci; c11orf30 and STAT6, which have been previously associated with both atopic and autoimmune diseases, and two EoE-specific loci, ANKRD27 that regulates the trafficking of melanogenic enzymes to epidermal melanocytes and CAPN14, that encodes a calpain whose expression is highly enriched in the oesophagus. The identification of five EoE loci, not only expands our aetiological understanding of the disease but may also represent new therapeutic targets to treat the most debilitating aspect of EoE, oesophageal inflammation and remodelling.

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

  • Adult
  • Calpain / genetics*
  • Case-Control Studies
  • Eosinophilic Esophagitis / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Guanine Nucleotide Exchange Factors / genetics*
  • Humans
  • Male
  • Neoplasm Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Repressor Proteins / genetics*
  • STAT6 Transcription Factor / genetics*

Substances

  • EMSY protein, human
  • Guanine Nucleotide Exchange Factors
  • Neoplasm Proteins
  • Nuclear Proteins
  • Repressor Proteins
  • STAT6 Transcription Factor
  • STAT6 protein, human
  • Varp protein, human
  • Calpain
  • calpain 14, human