Identification of Crohn's disease subtypes in single-cell RNA sequencing signatures of treatment-naive samples across the pediatric gastrointestinal tract

J Crohns Colitis. 2026 Jan 9;20(1):jjaf225. doi: 10.1093/ecco-jcc/jjaf225.

Abstract

Background: Crohn's disease (CD) is characterized by chronic intestinal inflammation. Previous single-cell transcriptomic studies have mostly focused on established disease, leaving a knowledge gap in relation to treatment-naive profiles across multiple regions of the gut.

Methods: To study disease onset, a treatment-naive pediatric CD cohort was recruited, and single-cell transcriptomics was performed on ileum, colon, and rectum biopsies collected at initial endoscopy. A clustering stability assessment workflow was developed to ensure clustering and downstream results were robust.

Results: Inflammation did not strongly influence cellular proportion due to heterogeneity across donor and tissue. Tensor decomposition revealed distinct mesenchymal and myeloid cell-mediated sources of disease pathology, corresponding to previously identified fibrotic and pro-inflammatory disease progression. Integrating transcriptomics and genome-wide association summary statistics for CD suggested myeloid and T cells drive disease, highlighting potential cellular therapeutic targets.

Conclusion: Tensor decomposition stratified donors into clinically meaningful groups based on their transcriptomic profile, suggesting these signatures can be utilized for personalized medicine.

Keywords: RNA-seq; pathology; single-cell.

MeSH terms

  • Adolescent
  • Child
  • Colon / pathology
  • Crohn Disease* / classification
  • Crohn Disease* / genetics
  • Crohn Disease* / pathology
  • Female
  • Gene Expression Profiling
  • Genome-Wide Association Study
  • Humans
  • Ileum / pathology
  • Male
  • Rectum / pathology
  • Sequence Analysis, RNA
  • Single-Cell Analysis
  • Transcriptome

Supplementary concepts

  • Pediatric Crohn's disease