Role of genetics, environment, and their interactions in the pathogenesis of eosinophilic esophagitis.

John Lyles, Marc Rothenberg

Journal: Current opinion in immunology 2020;60():46-53

PMID: 31132551

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Abstract

The rise in incidence and prevalence of eosinophilic esophagitis (EoE) since the 1990s has prompted investigations into its pathogenesis, natural history, and management. Identified genetic variants in FLG, DSG1, CAPN14, SPINK5, and SPINK7 link EoE to epithelial barrier dysfunction, whereas variants in CCL26, POSTN, and TSLP associate EoE with T helper type 2-mediated immunity. Early-life, infectious, and geographic factors have been implicated in promoting esophageal microbial dysbiosis and, subsequently, T helper type 2 immune responses. However, research into environmental factors and their interactions with genetic variants are not as developed as their genetic counterparts. Further research into the subgroups and epigenetics of EoE will likely promote further understanding.

Address: Division of Gastroenterology, Hepatology, and Nutrition, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, 3333 Burnet Ave, Cincinnati, OH, 45229, United States.; Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, 3333 Burnet Ave, Cincinnati, OH, 45229, United States. Electronic address: [email protected].

DOI: 10.1016/j.coi.2019.04.004

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MeSH Terms: Eosinophilic Esophagitis, Filaggrin Proteins, Gene-Environment Interaction, Genetic Variation, Humans