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

S. Ryu, K. H. Lee, K. Tizaoui, SALVATORE TERRAZZINO, Sarah CARGNIN, M. Effenberger, J. I. Shin, A. Kronbichler

Risultato della ricerca: Contributo su rivistaArticolo in rivistapeer 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.
Lingua originaleInglese
pagine (da-a)1-20
Numero di pagine20
RivistaInternational Journal of Molecular Sciences
Volume21
Numero di pubblicazione19
DOI
Stato di pubblicazionePubblicato - 2020

Keywords

  • Genetic susceptibility
  • Pathophysiology
  • Polymorphism

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