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Genomic insights into pediatric intestinal inflammatory and eosinophilic disorders using single-cell RNA-sequencing
Marissa R Keever-Keigher1, Lisa Harvey1, Veronica Williams2
1Children's Mercy Kansas City, Kansas, MO, United States.
Insights
Researchers identified distinct gene expression patterns in peripheral blood cells from patients with gastrointestinal inflammatory disorders. These findings may lead to new diagnostic markers for conditions like Crohn's disease and eosinophilic esophagitis.
Area of Science:
- Gastroenterology
- Immunology
- Molecular Biology
Background:
- Gastrointestinal inflammatory disorders, including inflammatory bowel diseases and eosinophilic disorders, cause significant tissue damage and symptoms.
- Overlapping symptoms often necessitate invasive diagnostic procedures.
Purpose of the Study:
- To investigate transcriptome alterations in peripheral blood mononuclear cells (PBMCs) from pediatric patients with gastrointestinal disorders.
- To identify potential peripheral blood biomarkers for active inflammation and diagnosis.
Main Methods:
- Single-cell RNA sequencing was performed on PBMCs from patients with Crohn's disease, ulcerative colitis, eosinophilic esophagitis, eosinophilic duodenitis, and healthy controls.
- Differential gene expression analysis was conducted across eight immune cell types.
Main Results:
- 730 differentially expressed genes (FDR < 0.05) were identified between patients and controls.
- Common patterns included widespread upregulation of MTRNR2L8.
- Distinct patterns were observed, such as XIST upregulation in ulcerative colitis and Th2-associated gene upregulation in eosinophilic disorders.
Conclusions:
- Transcriptome alterations in PBMCs reflect both shared and distinct molecular signatures across different gastrointestinal inflammatory disorders.
- These findings offer insights into potential peripheral blood-based diagnostic markers for these conditions.
Introduction:
Chronic inflammation of the gastrointestinal tissues underlies gastrointestinal inflammatory disorders, leading to tissue damage and a constellation of painful and debilitating symptoms. These disorders include inflammatory bowel diseases (Crohn's disease and ulcerative colitis), and eosinophilic disorders (eosinophilic esophagitis and eosinophilic duodenitis). Gastrointestinal inflammatory disorders can often present with overlapping symptoms necessitating the use of invasive procedures to give an accurate diagnosis.
Methods:
This study used peripheral blood mononuclear cells from individuals with Crohn's disease, ulcerative colitis, eosinophilic esophagitis, and eosinophilic duodenitis to better understand the alterations to the transcriptome of individuals with these diseases and identify potential markers of active inflammation within the peripheral blood of patients that may be useful in diagnosis. Single-cell RNA-sequencing was performed on peripheral blood mononuclear cells isolated from the blood samples of pediatric patients diagnosed with gastrointestinal disorders, including Crohn's disease, ulcerative colitis, eosinophilic esophagitis, eosinophilic duodenitis, and controls with histologically healthy gastrointestinal tracts.
Results:
We identified 730 (FDR < 0.05) differentially expressed genes between individuals with gastrointestinal disorders and controls across eight immune cell types.
Discussion:
There were common patterns among GI disorders, such as the widespread upregulation of MTRNR2L8 across cell types, and many differentially expressed genes showed distinct patterns of dysregulation among the different gastrointestinal diseases compared to controls, including upregulation of XIST across cell types among individuals with ulcerative colitis and upregulation of Th2-associated genes in eosinophilic disorders. These findings indicate both overlapping and distinct alterations to the transcriptome of individuals with gastrointestinal disorders compared to controls, which provide insight as to which genes may be useful as markers for disease in the peripheral blood of patients.
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