Pathogenesis of eosinophilic esophagitis: A comprehensive review of the genetic and molecular aspects

Seohyun Ryu, Keum Hwa Lee, Kalthoum Tizaoui, Salvatore Terrazzino, Sarah Cargnin, Maria Effenberger, Jae Il Shin, Andreas Kronbichler

Research output: Contribution to journalReview articlepeer-review

Abstract

Eosinophilic esophagitis (EoE) is a relatively new condition described as an allergicmediated disease of the esophagus. Clinically, it is characterized by dysphagia, food impaction, and reflux-like symptoms. Multiple genome-wide association studies (GWAS) have been conducted to identify genetic loci associated with EoE. The integration of numerous studies investigating the genetic polymorphisms in EoE and the Mendelian diseases associated with EoE are discussed to provide insights into the genetic risk of EoE, notably focusing on CCL26 and CAPN14. We focus on the genetic loci investigated thus far, and their classification according to whether the function near the loci is known. The pathophysiology of EoE is described by separately presenting the known function of each cell and molecule, with the major contributors being eosinophils, Th2 cells, thymic stromal lymphopoietin (TSLP), transforming growth factor (TGF)-β1, and interleukin (IL)-13. This review aims to provide detailed descriptions of the genetics and the comprehensive pathophysiology of EoE.

Original languageEnglish
Article number7253
Pages (from-to)1-20
Number of pages20
JournalInternational journal of molecular sciences
Volume21
Issue number19
DOIs
Publication statusPublished - 2020 Oct 1

All Science Journal Classification (ASJC) codes

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry

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