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

Authors
 Seohyun Ryu  ;  Keum Hwa Lee  ;  Kalthoum Tizaoui  ;  Salvatore Terrazzino  ;  Sarah Cargnin  ;  Maria Effenberger  ;  Jae Il Shin  ;  Andreas Kronbichler 
Citation
 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, Vol.21(19) : 7253, 2020-09 
Journal Title
 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 
Issue Date
2020-09
Keywords
genetic susceptibility ; pathophysiology ; polymorphism
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 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.
Files in This Item:
T202004730.pdf Download
DOI
10.3390/ijms21197253
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Shin, Jae Il(신재일) ORCID logo https://orcid.org/0000-0003-2326-1820
Lee, Keum Hwa(이금화) ORCID logo https://orcid.org/0000-0002-1511-9587
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/180416
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