TY - JOUR
T1 - Pathogenesis of eosinophilic esophagitis: A comprehensive review of the genetic and molecular aspects
AU - Ryu, S.
AU - Lee, K. H.
AU - Tizaoui, K.
AU - TERRAZZINO, SALVATORE
AU - CARGNIN, Sarah
AU - Effenberger, M.
AU - Shin, J. I.
AU - Kronbichler, A.
N1 - Publisher Copyright:
© 2020 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - Genetic susceptibility
KW - Pathophysiology
KW - Polymorphism
KW - Genetic susceptibility
KW - Pathophysiology
KW - Polymorphism
UR - https://iris.uniupo.it/handle/11579/116618
U2 - 10.3390/ijms21197253
DO - 10.3390/ijms21197253
M3 - Article
SN - 1661-6596
VL - 21
SP - 1
EP - 20
JO - International Journal of Molecular Sciences
JF - International Journal of Molecular Sciences
IS - 19
ER -