Role of genetics, environment, and their interactions in the pathogenesis of eosinophilic esophagitis

Curr Opin Immunol. 2019 Oct:60:46-53. doi: 10.1016/j.coi.2019.04.004. Epub 2019 May 25.


The rise in incidence and prevalence of eosinophilic esophagitis (EoE) since the 1990s has prompted investigations into its pathogenesis, natural history, and management. Identified genetic variants in FLG, DSG1, CAPN14, SPINK5, and SPINK7 link EoE to epithelial barrier dysfunction, whereas variants in CCL26, POSTN, and TSLP associate EoE with T helper type 2-mediated immunity. Early-life, infectious, and geographic factors have been implicated in promoting esophageal microbial dysbiosis and, subsequently, T helper type 2 immune responses. However, research into environmental factors and their interactions with genetic variants are not as developed as their genetic counterparts. Further research into the subgroups and epigenetics of EoE will likely promote further understanding.

Publication types

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

MeSH terms

  • Eosinophilic Esophagitis / genetics*
  • Eosinophilic Esophagitis / immunology
  • Eosinophilic Esophagitis / pathology
  • Filaggrin Proteins
  • Gene-Environment Interaction*
  • Genetic Variation / genetics
  • Humans