Genetic Findings in Eosinophilic Oesophagitis

EOSINOPHILIC oesophagitis (EoE) genetic variants have been linked to distinct clinical characteristics, histological findings, and accompanying atopic conditions in a large Spanish cohort, with researchers identifying both previously recognised and novel genetic associations. The findings suggest that specific single nucleotide polymorphisms (SNPs) may contribute to variation in disease presentation and could improve understanding of clinical heterogeneity in patients with eosinophilic oesophagitis.

Genetic Variants

The observational study included 628 patients with EoE recruited from four sites across Spain. Overall, 74% of participants were male, with a mean age of 32±15 years. Researchers analysed 38 SNPs that had previously been linked to disease risk using DNA extracted from peripheral blood samples. Genotyping was performed using the OpenArray platform. To strengthen the reliability of the findings, participants were divided into discovery and validation cohorts representing 70% and 30% of the study population, respectively.

Associations with Clinical Characteristics

Analysis confirmed an association between EoE and SNPs located at the 5q22 locus within this Spanish population. Researchers also identified two additional SNPs that had not previously been associated with EoE and showed a different distribution of the alternative allele.

A multivariate analysis identified four SNPs that predicted a mixed or stricturing disease phenotype. These variants were found in the ABCB1, KCNJ2, STAT6, and TGFB1 genes. In addition, specific genotypes of the CAPN14 gene, rs74732520-CG/GG and rs77569859-TC/CC, were associated with lower peak eosinophil counts at diagnosis, suggesting a relationship between genetic variation and histological disease activity.

Links with Atopic Conditions

With regard to accompanying atopic disease, the study identified distinct genetic associations involving asthma, conjunctivitis, and dermatitis. The IL13 rs1800925-TT genotype was associated with an increased risk of both asthma and conjunctivitis. Meanwhile, the ABCB1 rs2032582-TT genotype was linked to a reduced risk of dermatitis.

The authors concluded that analysis of genetic variants in patients with EoE identified several novel associations between specific SNPs and clinical characteristics of the disease. These findings expand current understanding of genetic influences on disease presentation and accompanying atopic conditions within a Spanish population, while highlighting potential genetic markers associated with differing clinical and histological manifestations.

Reference

Rodríguez-Alcolado L et al. Genetic variants associated with clinical characteristics and atopies in eosinophilic esophagitis. J Allergy Clin Immunol Glob. 2026;5(5):100745.

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