Background and aims Eosinophilic oesophagitis (EoE) is characterised by symptoms of esophageal dysfunction and oesinophil tissue infiltration. The EoE Diagnostic Panel (EDP) can distinguish between active and non-active EoE using a set of 77 genes. Recently, the existence of distinct EoE variants featuring symptoms similar to EoE, such as oesophageal dysfunction but lacking eosinophil infiltration, had been determined. Methods We used oesophageal biopsies from patients with histologically active (n=10) and non-active EoE (n=9) as well as from healthy oesophageal controls (n=5) participating in the Swiss Eosinophilic Esophagitis Cohort Study (SEECS) and analysed the gene expression profile in these biopsies by total RNA-sequencing (RNA-seq). Moreover, we employed the publicly accessible RNA-seq dataset (series GSE148381) as reported by Greuter et al , encompassing a comprehensive genomic profile of patients presenting with EoE variants. Results A novel, diagnostic gene expression panel that can effectively distinguish patients with histologically active conventional EoE from patients with EoE in histological remission and control individuals, and from three newly discovered EoE variants was identified. Histologically Active EoE Diagnostic Panel (HAEDP) consists of 53 genes that were identified based on differential expression between histologically active EoE, histological remission and controls (p≤0.05). By combining the HAEDP with EDP, we expanded our knowledge about factors that may contribute to the inflammation in EoE and improved our understanding of the underlying mechanisms of the disease. Conversely, we suggested a compact group of genes common to both HAEDP and EDP to create a reliable diagnostic tool that might enhance the accuracy of EoE diagnosis. Conclusion We identified a novel set of 53 dysregulated genes that are closely associated with the histological inflammatory activity of EoE. In combination with EDP, our new panel might be a valuable tool for the accurate diagnosis of patients with EoE as well as for monitoring their disease course. Data are available on reasonable request. Data are accessible on request in the National Center for Biotechnology Information (NCBI) Sequence Read Accessible (SRA) database with the accession code PRJNA1036399.

中文翻译：

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新型转录组学小组鉴定了组织学活动性嗜酸粒细胞性食管炎


背景和目的 嗜酸性粒细胞性食管炎（EoE）的特点是食管功能障碍和嗜酸性粒细胞组织浸润症状。 EoE 诊断面板 (EDP) 可以使用一组 77 个基因来区分活动 EoE 和非活动 EoE。最近，已确定存在独特的 EoE 变异，其特征与 EoE 相似，例如食管功能障碍但缺乏嗜酸性粒细胞浸润。方法 我们使用了组织学活动性 EoE (n=10) 和非活动性 EoE (n=9) 患者以及参加瑞士嗜酸性粒细胞性食管炎队列研究 (SEECS) 的健康对照者 (n=5) 的食管活检样本，并进行了分析通过总 RNA 测序 (RNA-seq) 分析这些活检中的基因表达谱。此外，我们采用了 Greuter 等人报道的可公开访问的 RNA-seq 数据集（GSE148381 系列），其中包含具有 EoE 变异的患者的全面基因组图谱。结果 鉴定出一种新型诊断基因表达组，可以有效地区分组织学活跃的常规 EoE 患者、组织学缓解的 EoE 患者和对照个体，以及三种新发现的 EoE 变异体。组织学活跃 EoE 诊断组 (HAEDP) 由 53 个基因组成，这些基因是根据组织学活跃 EoE、组织学缓解和对照之间的差异表达进行鉴定的 (p≤0.05)。通过将 HAEDP 与 EDP 相结合，我们扩展了对可能导致 EoE 炎症的因素的了解，并加深了我们对该疾病潜在机制的理解。相反，我们建议使用 HAEDP 和 EDP 共有的一组紧凑基因来创建可靠的诊断工具，从而提高 EoE 诊断的准确性。 结论 我们鉴定了一组新的 53 个失调基因，它们与 EoE 的组织学炎症活动密切相关。与 EDP 相结合，我们的新面板可能成为准确诊断 EoE 患者以及监测其病程的宝贵工具。可根据合理要求提供数据。数据可根据要求在国家生物技术信息中心 (NCBI) 序列读取可访问 (SRA) 数据库中获取，登录号为 PRJNA1036399。