Genetics of eosinophilic esophagitis

Mucosal Immunol. 2017 May;10(3):580-588. doi: 10.1038/mi.2017.4. Epub 2017 Feb 22.


Eosinophilic esophagitis (EoE) is a chronic, allergic disease associated with marked mucosal eosinophil accumulation. EoE disease risk is multifactorial and includes environmental and genetic factors. This review will focus on the contribution of genetic variation to EoE risk, as well as the experimental tools and statistical methodology used to identify EoE risk loci. Specific disease-risk loci that are shared between EoE and other allergic diseases (TSLP, LRRC32) or unique to EoE (CAPN14), as well as Mendellian Disorders associated with EoE, will be reviewed in the context of the insight that they provide into the molecular pathoetiology of EoE. We will also discuss the clinical opportunities that genetic analyses provide in the form of decision support tools, molecular diagnostics, and novel therapeutic approaches.

Publication types

  • Review

MeSH terms

  • Animals
  • Calpain / genetics*
  • Clinical Decision-Making
  • Cytokines / genetics*
  • Eosinophilic Esophagitis / genetics*
  • Eosinophils
  • Gene-Environment Interaction
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genotype
  • Humans
  • Membrane Proteins / genetics*
  • Mucous Membrane / immunology*
  • Polymorphism, Genetic
  • Thymic Stromal Lymphopoietin


  • Cytokines
  • LRRC32 protein, human
  • Membrane Proteins
  • CAPN14 protein, human
  • Calpain
  • Thymic Stromal Lymphopoietin