Abstract
The molecular mechanisms of obstructive sleep apnea (OSA), in particular the gene expression patterns in whole blood of patients with OSA, can shed more light on the underlying pathophysiology of OSA and suggest potential biomarkers. In the current study, we have enrolled thirty patients with untreated moderate-severe OSA together with 20 BMI, age, and sex-matched controls and 15 normal-weight controls. RNA-sequencing of whole blood and home sleep apnea testing were performed in the untreated state and after three and twelve months of continuous positive airway pressure (CPAP) treatment. Analysis of the whole blood transcriptome of the patients with OSA revealed a unique pattern of differential expression with a significant number of downregulated immune-related genes including many heavy and light chain immunoglobulins and interferon-inducible genes. This was confirmed by the gene ontology analysis demonstrating enrichment with the biological processes associated with various immune functions. Expression of these genes was recovered after three months of CPAP treatment. After 12 months of CPAP treatment, the overall gene expression profile returns to the initial, untreated level. In addition, we have confirmed the importance of choosing BMI-matched controls as a reference group as opposed to normal-weight healthy individuals based on the significantly different gene expression signatures between these two groups.
Highlights
Obstructive sleep apnea (OSA) is a disease characterized by repeated total or partial upper airway collapse during sleep with maintained respiratory efforts
On a gene expression level, obstructive sleep apnea (OSA) appears to be a complex disease with multiple genes and pathways being affected and the common association of OSA and obesity further complicates the search for true OSA biomarkers (Arnardottir et al, 2009)
We found that the gene expression was recovered to the level of controls after three months of nightly continuous positive airway pressure (CPAP) treatment
Summary
Obstructive sleep apnea (OSA) is a disease characterized by repeated total or partial upper airway collapse during sleep with maintained respiratory efforts. There have been series of reports published based on analysis of either whole blood or pe ripheral blood mononuclear cells transcriptome using a microarray approach comparing OSA patients to controls (Chen et al, 2017; Hoff mann et al, 2007; Lin et al, 2014), the effect of continuous positive airway pressure (CPAP) treatment (Gharib et al, 2014; Peng et al, 2019; Perry et al, 2013) or healthy volunteers exposed to the intermittent hypoxia (Polotsky et al, 2015) These studies have generated dissimilar results with up- or down-regulation of different genes involved in a variety of biological pathways, such as systemic and vascular inflam mation, neoplastic processes, induction of apoptosis, and cell adhesion and communication
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