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Background and Aims <p>The pathophysiology of eosinophilic esophagitis (EoE) is associated with a strong heritability and esophageal-specific genetic variants. Patients with esophageal atresia (EA) may be at higher risk of developing EoE considering the recently discovered genetic similarities between these disorders. This study aimed to identify genetic mutations associated with EoE, explore their potential role in susceptibility to concurrent EA, and evaluate the relationship between these mutations, clinical course, and treatment response.</p> Methods <p>Whole-exome sequencing was performed to identify the potential genomic regions associated with an increased risk of these disorders, and the analysis was expanded for candidate genes.</p> Results <p>A total of 35 cases (EA + EoE +; <i>n</i> = 7) were included. Pathogenic mutations in genes associated with EoE were identified in 2 cases, while likely pathogenic variants were identified in 5 cases. No polymorphisms were detected in 5 cases. Variants of uncertain significance (VUS) were identified in genes associated with EoE in 18 cases and in candidate genes in 7 cases. Patients with VUS exhibited a high percentage of associated EA, increased rates of atopy, and a notable response to treatment. The duration of the clinical response was significantly longer in individuals without genetic mutations (<i>p</i>-value:0.006). Among the isolated EoE cases, 50% had variants in genes previously associated with EoE, whereas in EA + EoE + cases, this rate increased to 71%, suggesting a stronger genetic predisposition in EA + EoE + cases.</p> Conclusion <p>Our study highlights the role of genetic mutations in the etiology of EoE. The identification of novel gene variants and new insights into etiopathogenesis are anticipated to enhance diagnosis, screening, and treatment strategies.</p>

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Genetic Background of Eosinophilic Esophagitis and Esophageal Atresia in Children

  • 期刊论文

  • 发表日期：

    2025年5月14日

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  • Ipek Ulkersoy,
  • Ahsen Colakoglu,
  • Eymen Pinar,
  • Ece Kuduban,
  • Erkan Akkus,
  • Oguzhan Tin,
  • Nursena Kologlu Ates,
  • Khusan Khodzhaev,
  • Hilal Keskin Karakoyun,
  • Ceyhan Sayar,
  • Nuray Kepil,
  • Kanay Yararbas,
  • Omer Faruk Beser,
  • Haluk Cokugras,
  • Fugen Cullu Cokugras

摘要

Background and Aims

The pathophysiology of eosinophilic esophagitis (EoE) is associated with a strong heritability and esophageal-specific genetic variants. Patients with esophageal atresia (EA) may be at higher risk of developing EoE considering the recently discovered genetic similarities between these disorders. This study aimed to identify genetic mutations associated with EoE, explore their potential role in susceptibility to concurrent EA, and evaluate the relationship between these mutations, clinical course, and treatment response.

Methods

Whole-exome sequencing was performed to identify the potential genomic regions associated with an increased risk of these disorders, and the analysis was expanded for candidate genes.

Results

A total of 35 cases (EA + EoE +; n = 7) were included. Pathogenic mutations in genes associated with EoE were identified in 2 cases, while likely pathogenic variants were identified in 5 cases. No polymorphisms were detected in 5 cases. Variants of uncertain significance (VUS) were identified in genes associated with EoE in 18 cases and in candidate genes in 7 cases. Patients with VUS exhibited a high percentage of associated EA, increased rates of atopy, and a notable response to treatment. The duration of the clinical response was significantly longer in individuals without genetic mutations (p-value:0.006). Among the isolated EoE cases, 50% had variants in genes previously associated with EoE, whereas in EA + EoE + cases, this rate increased to 71%, suggesting a stronger genetic predisposition in EA + EoE + cases.

Conclusion

Our study highlights the role of genetic mutations in the etiology of EoE. The identification of novel gene variants and new insights into etiopathogenesis are anticipated to enhance diagnosis, screening, and treatment strategies.