Pathogenesis of Eosinophilic Esophagitis: A Comprehensive Review of the Genetic and Molecular Aspects

Overview

Journal Int J Mol Sci

Publisher MDPI

Specialties Biochemistry
Chemistry
Molecular Biology

Date 2020 Oct 3

PMID 33008138

Citations 12

Authors

Seohyun Ryu

Keum Hwa Lee

Kalthoum Tizaoui

Salvatore Terrazzino

Sarah Cargnin

Maria Effenberger

Jae Il Shin

Andreas Kronbichler

Affiliations

Soon will be listed here.

Abstract

Eosinophilic esophagitis (EoE) is a relatively new condition described as an allergic-mediated 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 and . 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.

Citing Articles

The Dynamic Evolution of Eosinophilic Esophagitis.

Farah A, Assaf T, Hindy J, Abboud W, Mahamid M, Savarino E Diagnostics (Basel). 2025; 15(3).

PMID: 39941170 PMC: 11816659. DOI: 10.3390/diagnostics15030240.

Examining the Role of Type 2 Inflammation in Eosinophilic Esophagitis.

Chehade M, Falk G, Aceves S, Lee J, Mehta V, Leung J Gastro Hep Adv. 2024; 1(5):720-732.

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Eosinophils, Eosinophilic Gastrointestinal Diseases, and Inflammatory Bowel Disease: A Critical Review.

Migliorisi G, Mastrorocco E, Dal Buono A, Gabbiadini R, Pellegatta G, Spaggiari P J Clin Med. 2024; 13(14).

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Proton-Pump Inhibitors in Eosinophilic Esophagitis: A Review Focused on the Role of Pharmacogenetics.

Rodriguez-Alcolado L, Navarro P, Arias-Gonzalez L, Grueso-Navarro E, Lucendo A, Laserna-Mendieta E Pharmaceutics. 2024; 16(4).

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Mucosal neuroimmune mechanisms in gastro-oesophageal reflux disease (GORD) pathogenesis.

Leech T, Peiris M J Gastroenterol. 2024; 59(3):165-178.

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