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

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 loc...

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Autores principales: Ryu, Seohyun, Lee, Keum Hwa, Tizaoui, Kalthoum, Terrazzino, Salvatore, Cargnin, Sarah, Effenberger, Maria, Shin, Jae Il, Kronbichler, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7582808/
https://www.ncbi.nlm.nih.gov/pubmed/33008138
http://dx.doi.org/10.3390/ijms21197253
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author Ryu, Seohyun
Lee, Keum Hwa
Tizaoui, Kalthoum
Terrazzino, Salvatore
Cargnin, Sarah
Effenberger, Maria
Shin, Jae Il
Kronbichler, Andreas
author_facet Ryu, Seohyun
Lee, Keum Hwa
Tizaoui, Kalthoum
Terrazzino, Salvatore
Cargnin, Sarah
Effenberger, Maria
Shin, Jae Il
Kronbichler, Andreas
author_sort Ryu, Seohyun
collection PubMed
description 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 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.
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spelling pubmed-75828082020-10-28 Pathogenesis of Eosinophilic Esophagitis: A Comprehensive Review of the Genetic and Molecular Aspects Ryu, Seohyun Lee, Keum Hwa Tizaoui, Kalthoum Terrazzino, Salvatore Cargnin, Sarah Effenberger, Maria Shin, Jae Il Kronbichler, Andreas Int J Mol Sci Review 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 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. MDPI 2020-09-30 /pmc/articles/PMC7582808/ /pubmed/33008138 http://dx.doi.org/10.3390/ijms21197253 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Ryu, Seohyun
Lee, Keum Hwa
Tizaoui, Kalthoum
Terrazzino, Salvatore
Cargnin, Sarah
Effenberger, Maria
Shin, Jae Il
Kronbichler, Andreas
Pathogenesis of Eosinophilic Esophagitis: A Comprehensive Review of the Genetic and Molecular Aspects
title Pathogenesis of Eosinophilic Esophagitis: A Comprehensive Review of the Genetic and Molecular Aspects
title_full Pathogenesis of Eosinophilic Esophagitis: A Comprehensive Review of the Genetic and Molecular Aspects
title_fullStr Pathogenesis of Eosinophilic Esophagitis: A Comprehensive Review of the Genetic and Molecular Aspects
title_full_unstemmed Pathogenesis of Eosinophilic Esophagitis: A Comprehensive Review of the Genetic and Molecular Aspects
title_short Pathogenesis of Eosinophilic Esophagitis: A Comprehensive Review of the Genetic and Molecular Aspects
title_sort pathogenesis of eosinophilic esophagitis: a comprehensive review of the genetic and molecular aspects
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7582808/
https://www.ncbi.nlm.nih.gov/pubmed/33008138
http://dx.doi.org/10.3390/ijms21197253
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