Transcriptomic profiling of pediatric asthma by diseases state and severity.

IF 5.7 2区医学 Q1 Medicine

Respiratory Research Pub Date : 2026-07-20 DOI:10.1186/s12931-026-03805-0

Jihoon Kim, Jelte Kelchtermans, Frank Mentch, Fengxiang Wang, James Snyder, Yichuan Liu, Joseph Glessner, Hakon Hakonarson

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引用次数: 0

Abstract

Background: Despite the high prevalence of pediatric asthma, the molecular basis of its pathogenesis remains incompletely understood, in part due to the complex and heterogeneous nature of the disease.

Methods: In this study, we performed bulk RNA sequencing of peripheral blood mononuclear cells (PBMCs) from 183 children (114 asthma cases, 69 controls) across two independent cohorts as a minimally invasive approach to capture the gene expression changes underlying asthma status and severity.

Results: Our analysis identified robust signatures of pediatric asthma, including differential expression of a canonical asthma gene (RAB7B) and two novel genes (RPP38-DT, NCAL1), which encode long non-coding RNAs. Additionally, severity-stratified analyses revealed upregulation of several immune-related genes (CCL8, ACOD1, CXCL9, SLAMF1, EPN2) and downregulation of an uncharacterized transcript (ENSG00000288973) as asthma severity increased. Enrichment and co-expression analysis further implicate impaired type I interferon signaling in asthma disease severity.

Conclusions: Our results demonstrate contributions to the pathobiology of asthma among several novel molecular candidate genes, which may support future efforts towards molecular stratification of pediatric asthma.

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儿童哮喘疾病状态和严重程度的转录组学分析。

背景：尽管儿童哮喘发病率很高，但其发病机制的分子基础仍不完全清楚，部分原因是该病的复杂性和异质性。方法：在这项研究中，我们对183名儿童（114例哮喘患者，69例对照组）的外周血单个核细胞（PBMCs）进行了大量RNA测序，作为一种微创方法，以捕获哮喘状态和严重程度的基因表达变化。结果：我们的分析确定了儿童哮喘的强大特征，包括一个典型哮喘基因（RAB7B）和两个编码长链非编码rna的新基因（RPP38-DT, NCAL1）的差异表达。此外，严重程度分层分析显示，随着哮喘严重程度的增加，几种免疫相关基因（CCL8、ACOD1、CXCL9、SLAMF1、EPN2）上调，而一种未表征的转录物（ENSG00000288973）下调。富集和共表达分析进一步暗示I型干扰素信号通路受损与哮喘疾病严重程度有关。结论：我们的研究结果证明了几个新的分子候选基因对哮喘病理生物学的贡献，这可能支持未来对儿童哮喘分子分层的努力。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Respiratory Research RESPIRATORY SYSTEM-

CiteScore

9.70

自引率

1.70%

发文量

314

审稿时长

4-8 weeks

期刊介绍： Respiratory Research publishes high-quality clinical and basic research, review and commentary articles on all aspects of respiratory medicine and related diseases. As the leading fully open access journal in the field, Respiratory Research provides an essential resource for pulmonologists, allergists, immunologists and other physicians, researchers, healthcare workers and medical students with worldwide dissemination of articles resulting in high visibility and generating international discussion. Topics of specific interest include asthma, chronic obstructive pulmonary disease, cystic fibrosis, genetics, infectious diseases, interstitial lung diseases, lung development, lung tumors, occupational and environmental factors, pulmonary circulation, pulmonary pharmacology and therapeutics, respiratory immunology, respiratory physiology, and sleep-related respiratory problems.