Identifying and validating immunological biomarkers in obstructive sleep apnea through bioinformatics analysis

Abstract Obstructive sleep apnea (OSA) is a prevalent sleep disorder characterized by disrupted breathing patterns and dysfunctions in multiple organ systems. Although studies support a close correlation between OSA and immune function, the broader implications and specific manifestations remain unc...

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Main Authors: En-hui Zhou, Tian-jiao Zhou, Xiao-ting Wang, Jing-yu Zhang, Jian Guan, Shan-kai Yin, Wei-jun Huang, Hong-liang Yi, Jian-yin Zou
Format: Article
Language:English
Published: Nature Portfolio 2025-03-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-93915-4
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author En-hui Zhou
Tian-jiao Zhou
Xiao-ting Wang
Jing-yu Zhang
Jian Guan
Shan-kai Yin
Wei-jun Huang
Hong-liang Yi
Jian-yin Zou
author_facet En-hui Zhou
Tian-jiao Zhou
Xiao-ting Wang
Jing-yu Zhang
Jian Guan
Shan-kai Yin
Wei-jun Huang
Hong-liang Yi
Jian-yin Zou
author_sort En-hui Zhou
collection DOAJ
description Abstract Obstructive sleep apnea (OSA) is a prevalent sleep disorder characterized by disrupted breathing patterns and dysfunctions in multiple organ systems. Although studies support a close correlation between OSA and immune function, the broader implications and specific manifestations remain unclear. Therefore, it is pressingly needed to identify potential immune-related markers and elucidate underlying immunological mechanisms of OSA. OSA-related datasets (GSE38792) and immune-related genes were downloaded from the GEO and ImmPort databases and intersected to obtain differentially expressed immune-related genes (DEIRGs). GO, KEGG, and GSEA were employed to explore the biological functions of DEIRGs. Immune cells and immune regulation were analyzed by CIBERSORT. The ROC curve was constructed to assess the accuracy of each DEIRG. The co-regulatory networks of transcription factors, microRNAs, and drugs were built using the NetworkAnalyst database and visualized by Cytoscape. The levels of DEIRGs in clinical samples were validated by RT-qPCR. GO, KEGG, and GSEA revealed that DEGs were mainly enriched in negative regulation of immune response and antigen processing and presentation in OSA. IL33, IL10RB, ANGPTL1, EIF2AK2, SEM1, IFNA16, SLC40A1, FCER1G, IL1R1, TNFRSF17, and ERAP2 were identified as DEIRGs among 175 differentially expressed genes in OSA. Memory B cells, mast cells resting, and dendritic cells resting were the predominant immune cells related to DEIRGs. The co-regulatory network contained 128 miRNAs, 40 transcription factors, and 172 drugs/compounds. Finally, IL33, EIF2AK2, IL10RB, and ANGPTL1 were also upregulated in clinical OSA samples. The present study identified potential immune-related biomarkers and systematically elucidated underlying immunological mechanisms of OSA. These findings provide novel insights into the diagnosis, mechanism research, and management strategies for future studies.
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spelling doaj-art-29db06f8b2af453d98049e1502f6f2d72025-08-20T03:41:40ZengNature PortfolioScientific Reports2045-23222025-03-0115111210.1038/s41598-025-93915-4Identifying and validating immunological biomarkers in obstructive sleep apnea through bioinformatics analysisEn-hui Zhou0Tian-jiao Zhou1Xiao-ting Wang2Jing-yu Zhang3Jian Guan4Shan-kai Yin5Wei-jun Huang6Hong-liang Yi7Jian-yin Zou8Department of Otorhinolaryngology Head and Neck Surgery, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of MedicineDepartment of Otorhinolaryngology Head and Neck Surgery, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of MedicineDepartment of Otorhinolaryngology Head and Neck Surgery, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of MedicineDepartment of Otorhinolaryngology Head and Neck Surgery, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of MedicineDepartment of Otorhinolaryngology Head and Neck Surgery, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of MedicineDepartment of Otorhinolaryngology Head and Neck Surgery, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of MedicineDepartment of Otorhinolaryngology Head and Neck Surgery, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of MedicineDepartment of Otorhinolaryngology Head and Neck Surgery, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of MedicineDepartment of Otorhinolaryngology Head and Neck Surgery, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of MedicineAbstract Obstructive sleep apnea (OSA) is a prevalent sleep disorder characterized by disrupted breathing patterns and dysfunctions in multiple organ systems. Although studies support a close correlation between OSA and immune function, the broader implications and specific manifestations remain unclear. Therefore, it is pressingly needed to identify potential immune-related markers and elucidate underlying immunological mechanisms of OSA. OSA-related datasets (GSE38792) and immune-related genes were downloaded from the GEO and ImmPort databases and intersected to obtain differentially expressed immune-related genes (DEIRGs). GO, KEGG, and GSEA were employed to explore the biological functions of DEIRGs. Immune cells and immune regulation were analyzed by CIBERSORT. The ROC curve was constructed to assess the accuracy of each DEIRG. The co-regulatory networks of transcription factors, microRNAs, and drugs were built using the NetworkAnalyst database and visualized by Cytoscape. The levels of DEIRGs in clinical samples were validated by RT-qPCR. GO, KEGG, and GSEA revealed that DEGs were mainly enriched in negative regulation of immune response and antigen processing and presentation in OSA. IL33, IL10RB, ANGPTL1, EIF2AK2, SEM1, IFNA16, SLC40A1, FCER1G, IL1R1, TNFRSF17, and ERAP2 were identified as DEIRGs among 175 differentially expressed genes in OSA. Memory B cells, mast cells resting, and dendritic cells resting were the predominant immune cells related to DEIRGs. The co-regulatory network contained 128 miRNAs, 40 transcription factors, and 172 drugs/compounds. Finally, IL33, EIF2AK2, IL10RB, and ANGPTL1 were also upregulated in clinical OSA samples. The present study identified potential immune-related biomarkers and systematically elucidated underlying immunological mechanisms of OSA. These findings provide novel insights into the diagnosis, mechanism research, and management strategies for future studies.https://doi.org/10.1038/s41598-025-93915-4Obstructive sleep apneaImmune-related genesImmune functionBiomarkersBioinformatics analysis
spellingShingle En-hui Zhou
Tian-jiao Zhou
Xiao-ting Wang
Jing-yu Zhang
Jian Guan
Shan-kai Yin
Wei-jun Huang
Hong-liang Yi
Jian-yin Zou
Identifying and validating immunological biomarkers in obstructive sleep apnea through bioinformatics analysis
Scientific Reports
Obstructive sleep apnea
Immune-related genes
Immune function
Biomarkers
Bioinformatics analysis
title Identifying and validating immunological biomarkers in obstructive sleep apnea through bioinformatics analysis
title_full Identifying and validating immunological biomarkers in obstructive sleep apnea through bioinformatics analysis
title_fullStr Identifying and validating immunological biomarkers in obstructive sleep apnea through bioinformatics analysis
title_full_unstemmed Identifying and validating immunological biomarkers in obstructive sleep apnea through bioinformatics analysis
title_short Identifying and validating immunological biomarkers in obstructive sleep apnea through bioinformatics analysis
title_sort identifying and validating immunological biomarkers in obstructive sleep apnea through bioinformatics analysis
topic Obstructive sleep apnea
Immune-related genes
Immune function
Biomarkers
Bioinformatics analysis
url https://doi.org/10.1038/s41598-025-93915-4
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