Genetic variants associated with clinical characteristics and atopies in eosinophilic esophagitis

Background: Eosinophilic esophagitis (EoE) and atopy are associated with several genetic variants; however, their relationship with clinical features has been scarcely investigated. Objective: We sought to characterize the distribution of such variants and evaluate the association with endoscopic and histologic presentation of EoE and concomitant atopies. Methods: Thirty-eight single nucleotide polymorphisms (SNPs), previously linked to EoE risk, were analyzed in a large cohort of Spanish patients. An observational study was performed in patients with EoE recruited at 4 sites. SNP genotyping was performed using the OpenArray platform (Thermo Fisher Scientific) from DNA samples extracted from peripheral blood. To enhance the robustness and reliability of the identified genetic associations, patients were divided into discovery (70%) and validation (30%) cohorts. Results: rs2032582-TT was linked to a reduced risk of dermatitis. Conclusions: The analysis of genetic variants in a Spanish population with EoE showed novel associations between specific SNPs and clinical characteristics of this disease.