Genetic variations in the TLR3 locus are associated with eosinophilic esophagitis

United European Gastroenterology Journal
Robledo Ávila-CastellanoJoaquin Quiralte

Abstract

Eosinophilic esophagitis (EoE) is an antigen-driven disease mediated by an abnormal immune Th2 response. The objective of this article is to investigate genes associated with regulating immune responses leading to disease susceptibility. Twenty-seven tag single nucleotide polymorphisms (tSNPs) selected in five candidate genes (TLR3, TLR4, FOXP3, FLG and TSLP) 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. Five tSNPs located in the TSLP locus and one tSNP located in the TLR3 locus were significantly associated with EoE. The interactions between TLR3 and TSLP loci were analyzed. TLR3+/TSLP- and TLR3-/TSLP+ individuals showed a significantly reduced susceptibility to EoE compared to TLR3-/TSLP- individuals (OR = 0.66, p = 0.036 and OR = 0.23, p = 0.00014, respectively). Likewise, TLR3+/TSLP+ individuals showed the most decreased susceptibility of developing EoE (OR = 0.16, p = 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, TLR3 locus was found to be associated with aeroallergen ...Continue Reading

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Citations

Jul 4, 2019·Allergy·Melanie A RuffnerKathleen E Sullivan
Feb 23, 2019·Expert Review of Gastroenterology & Hepatology·Ángel Arias, Alfredo J Lucendo
Nov 6, 2018·Expert Review of Clinical Immunology·Melanie A RuffnerAntonella Cianferoni
Oct 27, 2018·Frontiers in Medicine·Elisa Gomez TorrijosJoan Bartra
Nov 2, 2019·Current Pediatric Reviews·Antonella Cianferoni

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Methods Mentioned

BETA
biopsies
Genotyping

Software Mentioned

Haploview
OpenEpi
MDR

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