Ávila-Castellano Robledo, García-Lozano José-Raúl, Cimbollek Stefan, Lucendo Alfredo J, Bozada Juan-Manuel, Quiralte Joaquín
1Division of Allergy, UGC Intercentros, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
Servicio de Inmunología, Unidad de Gestión Clínica "Laboratorios Clinicos," Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain.
United European Gastroenterol J. 2018 Apr;6(3):349-357. doi: 10.1177/2050640617732643. Epub 2017 Sep 13.
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 ( 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.
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).
constitutes a novel genetic susceptibility locus for developing EoE, and the effects would be independent of .
嗜酸性粒细胞性食管炎（EoE）是一种由异常免疫Th2反应介导的抗原驱动性疾病。
本文旨在研究与调节导致疾病易感性的免疫反应相关的基因。
对218例EoE患者和376例对照进行基因分型，这些基因分型来自5个候选基因（和）中选择的27个标签单核苷酸多态性（tSNP）。对一组17种气传变应原和22种动植物源性食物对EoE患者进行皮肤点刺试验。
位于位点的5个tSNP和位于位点的1个tSNP与EoE显著相关。分析了和位点之间的相互作用。与个体相比，和个体对EoE的易感性显著降低（OR分别为0.66，=0.036和OR为0.23，=0.00014）。同样，个体发生EoE的易感性降低最为明显（OR=0.16，=0.0001）。然而，两个基因组合的相互作用增益为负（IG=-4.52%），这表明存在冗余或独立效应。此外，发现位点与EoE患者的气传变应原和食物致敏相关（OR分别为9.67，=0.025和OR为0.53，=0.048）。
是EoE发生的一个新的遗传易感性位点，其作用独立于。
