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基于自噬筛选的生物标志物在小儿炎症性肠病诊断和监测中的临床应用价值。

The clinical application value of the biomarkers based on autophagy screening in the diagnosis and monitoring of inflammatory bowel disease in pediatric patients.

作者信息

Xu Xiaohong, Kong Yan, Ye Xiaolin, Nie Xiaolu, Zhang Tianzhuo, Wu Jie

机构信息

Department of Gastroenterology, Beijing Children's Hospital, Capital Medical University, No.56 Nanlishi Road, Xicheng District, Beijing, 100045, China.

Center for Clinical Epidemiology and Evidence-Based Medicine, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.

出版信息

Eur J Pediatr. 2025 Jun 9;184(7):405. doi: 10.1007/s00431-025-06213-6.

DOI:10.1007/s00431-025-06213-6
PMID:40488902
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12149258/
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.

摘要

未标注：炎症性肠病（IBD）是儿童和成人的免疫介导性疾病。自噬功能障碍与IBD病理相关，我们筛选并评估了用于小儿IBD诊断和活动评估的潜在生物标志物。通过GeneCards和GEO数据库获取IBD样本的自噬基因表达矩阵。使用R语言“limma”包获得显著差异表达基因，随后使用“clusterProfile”包进行KEGG富集分析。总共从北京儿童医院选取了95例小儿IBD患者和44例对照，将IBD受试者分为IBD缓解组和IBD活动组。通过RT-qPCR测定小儿IBD患者外周血自噬相关基因水平。筛选出与小儿IBD发生和活动独立相关的自噬基因，并评估其在诊断和监测小儿IBD活动中的价值。获得OPTN、GABARAPL2、FKBP8、BNIP3L和BCL2L1作为自噬相关基因。IBD患者中FKBP8和BCL2L1 mRNA表达水平升高。BCL2L1是小儿IBD发生的独立危险因素（IRF）。外周血BCL2L1>0.75对小儿IBD发生具有较高的辅助诊断价值。IBD活动组中BCL2L1和GABARAPL2高于IBD缓解组。外周血BCL2L1是小儿IBD活动的IRF。外周血BCL2L1>1.96对小儿IBD活动具有较高的辅助预测价值。 结论：BCL2L1是小儿IBD发生和疾病活动的IRF，在辅助小儿IBD诊断和预测疾病活动方面具有较高的临床应用价值。 已知信息：•自噬功能障碍与IBD相关。•尚无关于自噬相关生物标志物在IBD诊断和活动监测中的临床应用的研究报道。 新发现：•BCL2L1是小儿IBD发生和疾病活动的IRF。•BCL2L1在辅助小儿IBD诊断和预测疾病活动方面具有较高的临床应用价值。

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本文引用的文献

[1]
Differential Gene Expression Profiles in Inflammatory Bowel Disease Patients from Kurdistan, Iraq.

Sultan Qaboos Univ Med J. 2024-2

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Autoimmun Rev. 2024-3

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Diagnostics (Basel). 2023-9-13

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Autophagy-related genes analysis reveals potential biomarkers for prediction of the impaired walking capacity of peripheral arterial disease.

BMC Med. 2023-5-18

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