Obstructive sleep apnea-hypopnea syndrome (OSAS) is a common disorder in which repeated airway blockages during sleep lead to low oxygen levels, inflammation, and disrupted sleep. Many OSAS patients-both children and adults-experience problems with memory, attention, and mood, such as anxiety or depression. However, the exact molecular drivers of these brain changes are not fully understood.
This observational study will enroll:
Children (ages 2-18) and adults (\>18 years) with OSAS, as well as age- and sex-matched healthy volunteers.
Clinical assessments: Children will undergo routine ENT examinations (including nasal endoscopy and X-rays); adults will have an overnight sleep study (polysomnography). All participants will complete questionnaires on sleepiness (e.g., ESS), mood (PHQ-9, GAD-7), and cognitive screening (MoCA for adults, age-appropriate scales for children).
Sample collection: A small blood draw (3 mL) and, when applicable (e.g., adults undergoing surgery), a tiny subcutaneous fat biopsy. Saliva samples will also be collected.
Laboratory tests:
Measure expression levels of two key inflammatory pathway genes-EGR2 and NLRP3-in blood cells, saliva, and fat tissue using RNA sequencing, RT-qPCR, and Western Blot.
Correlate these molecular markers with sleep parameters (AHI, oximetry), cognitive scores, and mood scores.
Data analysis: Develop and validate machine-learning models that integrate data from multiple tissues to predict who is at highest risk for cognitive or mood disturbances.
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his observational study will enroll both pediatric and adult participants with obstructive sleep apnea-hypopnea syndrome (OSAS) alongside age-matched healthy controls. Specifically: Pediatric cohort (2-18 years): Four age strata (2-6, 7-9, 10-12, 13-18 years), each with 50 OSAS patients and 50 healthy controls. Adult cohort (\>18 years): Four age strata (18-40, 41-60, 61-80, \>80 years), each with 50 OSAS patients and 50 healthy controls. Participants will be recruited from the ENT outpatient and sleep/respiratory clinics of Shanghai Xinhua Hospital and the MED-X Research Institute, Shanghai Jiao Tong University, between July 2025 and September 2026.
Other
Retrospective
EGR2/NLRP3 pathway activity
Procedure/SurgeryPeripheral blood collection \& PBMC isolation: Children: 3 mL venous blood drawn from the right antecubital vein preoperatively; Adults: 3 mL fasting venous blood drawn the morning after PSG. Collected in EDTA tubes; PBMCs separated via Ficoll-Paque density gradient. Flow cytometry: 1×10⁶ PBMCs stained for CD14/CD16, HLA-DR, CD11b, CD80/CD86, CD163/CD206. RNA extraction: Remaining PBMCs lysed in TRIzol and stored at -80 °C for RT-qPCR of EGR2, NLRP3, and downstream genes Serum/plasma: Within 1 h of collection, centrifuge at 400 × g for 10 min at 4 °C; 1 mL used for ELISA quantification of TNF-α, IL-6, IL-1β, CCL2, IL-17, CRP; remainder stored at -80 °C for future proteomic or metabolomic assays Saliva sampling \& processing: 2-3 mL unstimulated saliva expectorated into sterile tubes, kept at 4 °C, processed (centrifuged, aliquoted) within 2 h, then stored at -80 °C.
fatty tissue
Procedure/SurgerySubcutaneous fat biopsy (adults undergoing surgery): 100-200 mg obtained intraoperatively, placed in RNAlater at 4 °C for 24 h, then frozen at -80 °C for downstream RNA-seq, RT-qPCR, and Western blot analyses of EGR2, NLRP3, and related inflammatory markers
Expression levels of EGR2 and NLRP3 in PBMCs, saliva, and subcutaneous fat tissue
Quantitative measurement of EGR2 and NLRP3 mRNA (by RNA-seq and RT-qPCR) and protein levels (by Western blot and ELISA) in peripheral blood mononuclear cells, saliva, and (when available) subcutaneous fat tissue collected at baseline. These molecular markers will be correlated with cognitive (MoCA) and mood (PHQ-9, GAD-7) scores
Multi-omics association of molecular markers with clinical phenotypes
Integration of transcriptomic (RNA-seq) and proteomic/metabolomic data from PBMC, saliva, and fat samples. Construction of weighted gene co-expression network analysis (WGCNA) modules and core protein-protein interaction (PPI) networks centered on EGR2/NLRP3, with annotation of inflammation and blood-brain barrier pathways; assessment of module eigengene correlations with AHI, minimum SpO₂, MoCA, PHQ-9, and GAD-7 scores.
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