Correlation of the expression of circadian-clock genes with the severity of obstructive sleep apnea in patients

This study investigates the connection of Obstructive Sleep Apnea (OSA) with the expression and daily oscillation patterns of core circadian clock genes and related genes. OSA, a sleep disorder characterized by repetitive airway occlusion leading to nocturnal arousals, sleep fragmentation, and intermittent hypoxemia (IH), shares sleep dysfunction as an overlapping phenotype with circadian clock genes. The research involved 40 subjects (30 OSA patients and 10 normal controls), categorized into four groups based on Polysomnography (PSG) results: normal, mild, moderate, and severe. Peripheral blood samples were collected twice from each participant in the evening before and the morning after PSG examination. Using real-time quantitative reverse transcriptase-polymerase chain reaction (RT-qPCR), the study measured the expression levels of target genes in leukocytes. Results revealed changes in diurnal expression patterns of several genes (<i>PER1, PER3, CRY1, BMAL1, CLOCK, HIF-1α, IL-1β, TNFα)</i> in OSA groups compared to normal controls. While <i>PER2, CRY2</i>, and <i>NPAS2</i> genes did not show diurnal patterns, their expression was significantly elevated in severe OSA. Notably, the expression levels of HIF-1α, IL-1β, and TNFα increased with OSA severity, consistent with the roles of IH and inflammation as clinical indicators in OSA. These findings not only demonstrate that circadian clock-related gene expression fluctuates with OSA but also provide potential molecular markers for early diagnosis and personalized treatment. By identifying biomarkers parallel to clinical indicators in OSA, this innovative study paves the way for future research and clinical applications in the field.