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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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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. |
format | Online Article Text |
id | pubmed-7582808 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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