Genetic Variations in the Locus Are Associated with Eosinophilic Esophagitis

Overview

Journal United European Gastroenterol J

Publisher Wiley

Specialty Gastroenterology

Date 2018 May 19

PMID 29774148

Citations 9

Authors

Robledo Avila-Castellano

Jose-Raul Garcia-Lozano

Stefan Cimbollek

Alfredo J Lucendo

Juan-Manuel Bozada

Joaquin Quiralte

Affiliations

Soon will be listed here.

Abstract

Background: Eosinophilic esophagitis (EoE) is an antigen-driven disease mediated by an abnormal immune Th2 response.

Objective: The objective of this article is to investigate genes associated with regulating immune responses leading to disease susceptibility.

Methods: Twenty-seven tag single nucleotide polymorphisms (tSNPs) selected in five candidate genes ( and ) were genotyped in 218 EoE patients and 376 controls. Skin prick tests were carried out in EoE patients with a panel of 17 aeroallergens and 22 plant- and animal-derived foods.

Results: Five tSNPs located in the locus and one tSNP located in the locus were significantly associated with EoE. The interactions between and loci were analyzed. and individuals showed a significantly reduced susceptibility to EoE compared to individuals (OR = 0.66, = 0.036 and OR = 0.23, = 0.00014, respectively). Likewise, individuals showed the most decreased susceptibility of developing EoE (OR = 0.16, = 0.0001). However, the interaction gain attributed to the combination of both genes was negative (IG = -4.52%), which indicated redundancy or independent effect. Additionally, locus was found to be associated with aeroallergen and food sensitization in EoE patients (OR = 9.67, = 0.025 and OR = 0.53, = 0.048, respectively).

Conclusion: constitutes a novel genetic susceptibility locus for developing EoE, and the effects would be independent of .

Citing Articles

Eosinophilic Esophagitis and Inflammatory Bowel Disease: What Are the Differences?.

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Development and dysfunction of structural cells in eosinophilic esophagitis.

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An esophagus cell atlas reveals dynamic rewiring during active eosinophilic esophagitis and remission.

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Viral Induced Effects on a Vulnerable Epithelium; Lessons Learned From Paediatric Asthma and Eosinophilic Oesophagitis.

Watkinson R, Looi K, Laing I, Cianferoni A, Kicic A Front Immunol. 2021; 12:773600.

PMID: 34912343 PMC: 8666438. DOI: 10.3389/fimmu.2021.773600.

Eosinophilic esophagitis: an interdisciplinary clinical problem.

Wojas O, Zalikowska-Gardocka M, Krzych-Falta E, Samolinski B, Przybylkowski A Postepy Dermatol Alergol. 2021; 38(2):36-42.

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