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Updated: Jul 7, 2026

Three-Dimensional Cell Culture Models to Investigate the Epithelial Barrier in Eosinophilic Esophagitis
Published on: May 10, 2024
Genetic variants associated with clinical characteristics and atopies in eosinophilic esophagitis
Leticia Rodríguez-Alcolado1,2,3, Marcos Navares-Gómez4,5, Sergio Casabona-Francés5,6
1Department of Surgery, Medical and Social Sciences, Universidad de Alcalá, Alcalá de Henares, Madrid, Spain.
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:
Overall, 628 patients with EoE (74% male; mean age, 32 ± 15 years) were recruited. An association between EoE and SNPs located at the 5q22 locus was confirmed in our cohort; in addition, 2 new SNPs not previously associated with EoE in which the alternative allele distributed differently were identified. A multivariate model identified 4 SNPs (ABCB1 rs1128503, KCNJ2 rs312691, STAT6 rs841718, and TGFB1 rs8179181) predicting a mixed/stricturing phenotype. CAPN14 rs74732520-CG/GG and rs77569859-TC/CC genotypes were associated with lower peak eosinophil counts at diagnosis. Regarding concomitant atopies, IL13 rs1800925-TT was associated with increased risk for asthma and conjunctivitis, whereas ABCB1 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.
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