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Article Abstract

Unlabelled: Inflammatory bowel diseases (IBD) are immune-mediated disorders of children and adults. Autophagy dysfunction has been linked to IBD pathology, and we screened and evaluated the potential biomarkers for pediatric IBD diagnosis and activity evaluation. The autophagy gene expression matrix of IBD samples was obtained via GeneCards and GEO databases. Significant differentially expressed genes were obtained using the R language "limma" package, followed by KEGG enrichment analysis using the "clusterProfile" package. Totally, 95 pediatric IBD patients and 44 controls were selected from Beijing Children's Hospital, with IBD subjects divided into the IBD-Remission and IBD-Activity groups. Peripheral blood autophagy-related gene levels in pediatric IBD patients were determined by RT-qPCR. Autophagy genes that were independently correlated with pediatric IBD occurrence and activity were screened, with their value for diagnosing and monitoring the activity of pediatric IBD assessed. OPTN, GABARAPL2, FKBP8, BNIP3L, and BCL2L1 were obtained as the autophagy-related genes. FKBP8 and BCL2L1 mRNA expression levels were elevated in IBD patients. BCL2L1 was an independent risk factor (IRF) for pediatric IBD occurrence. Peripheral blood BCL2L1 > 0.75 had high auxiliary diagnostic value for pediatric IBD occurrence. BCL2L1 and GABARAPL2 were higher in the IBD-Activity group than in the IBD-Remission group. Peripheral blood BCL2L1 was an IRF for pediatric IBD activity. Peripheral blood BCL2L1 > 1.96 had high auxiliary predictive value for pediatric IBD activity.

Conclusion:  BCL2L1 was an IRF for the occurrence and disease activity of pediatric IBD and had high clinical application value in assisting pediatric IBD diagnosis and predicting disease activity.

What Is Known: • Autophagy dysfunction is associated with IBD. • No research reports on the clinical application of autophagy-related biomarkers in the diagnosis and activity monitoring of IBD.

What Is New: • BCL2L1 was an IRF for the occurrence and disease activity of pediatric IBD. • BCL2L1 had high clinical application value in assisting pediatric IBD diagnosis and predicting disease activity.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12149258PMC
http://dx.doi.org/10.1007/s00431-025-06213-6DOI Listing

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