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Transcriptomic profiling of pediatric asthma by diseases state and severity
Jihoon Kim1, Jelte Kelchtermans1,2,3, Frank Mentch1
1The Center of Applied Genomics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA.
Respiratory Research
|July 21, 2026
Summary
Researchers identified novel genes linked to pediatric asthma, revealing insights into the disease
Area of Science:
- Genomics
- Immunology
- Pediatrics
Background:
- Pediatric asthma is common but its molecular underpinnings are not fully understood.
- Disease complexity and heterogeneity contribute to knowledge gaps.
Purpose of the Study:
- To investigate gene expression changes associated with pediatric asthma.
- To identify novel molecular candidates contributing to asthma pathogenesis and severity.
Main Methods:
- Bulk RNA sequencing was performed on peripheral blood mononuclear cells (PBMCs).
- Analysis included 183 children (114 asthma cases, 69 controls) across two cohorts.
- Severity-stratified analyses were conducted.
Main Results:
- Differential expression of known (RAB7B) and novel genes (RPP38-DT, NCAL1) associated with pediatric asthma.
- Upregulation of immune genes (CCL8, ACOD1, CXCL9, SLAMF1, EPN2) and downregulation of a transcript (ENSG00000288973) correlated with increased asthma severity.
- Impaired type I interferon signaling implicated in asthma severity via enrichment and co-expression analysis.
Conclusions:
- Novel molecular candidate genes contribute to pediatric asthma pathobiology.
- Findings may aid in future molecular stratification of pediatric asthma.
- Identified genes offer potential therapeutic targets.
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