Maingredy Rodrigues Souza, Mariana Moysés-Oliveira, Allan Saj Porcacchia, Daniela Santoro Rosa, Sergio Tufik, Monica Levy Andersen
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引用次数: 0
Abstract
Purpose: Obstructive sleep apnea (OSA) and asthma are connected through similar epidemiology, clinical symptoms, pathophysiological features, and risk factors. However, the shared genetic basis of these conditions remains poorly understood. This study sought to identify risk genes that contribute to both OSA and asthma and to explore their associated biological pathways.
Methods: This study was conducted using an in silico approach based on publicly available Genome-Wide Association Studies (GWAS) data. Gene sets associated with OSA (2,159 genes) and asthma (786 genes) were manually curated from GWAS results. These lists were subsequently compared to identify intersecting genes, and their statistical significance was assessed using Fisher's Exact Test. Pathway enrichment analysis was conducted utilizing the Benjamini-Hochberg test with a significance threshold set at an adjusted p-value < 0.05.
Results: A total of 187 genes overlapped between OSA and asthma, indicating a significantly higher occurrence than expected by chance. The pathway overrepresentation analysis of these intersecting genes identified processes associated with immune system functions, encompassing human leucocyte antigen (HLA), antigen presentation, cell differentiation, cell signaling, and positive regulation of inflammatory mediators.
Conclusion: This study unveils shared genetic mechanisms associated with OSA and asthma risks, highlighting intricate interactions within pathways governing immune response and inflammation. These findings provide a preliminary step toward understanding the genetic basis of this association; however, their clinical significance remains to be established. Further functional studies and validation in independent cohorts are needed to determine their potential relevance for biomarker development and immune-targeted therapeutic strategies.
期刊介绍：
The journal Sleep and Breathing aims to reflect the state of the art in the international science and practice of sleep medicine. The journal is based on the recognition that management of sleep disorders requires a multi-disciplinary approach and diverse perspectives. The initial focus of Sleep and Breathing is on timely and original studies that collect, intervene, or otherwise inform all clinicians and scientists in medicine, dentistry and oral surgery, otolaryngology, and epidemiology on the management of the upper airway during sleep.
Furthermore, Sleep and Breathing endeavors to bring readers cutting edge information about all evolving aspects of common sleep disorders or disruptions, such as insomnia and shift work. The journal includes not only patient studies, but also studies that emphasize the principles of physiology and pathophysiology or illustrate potentially novel approaches to diagnosis and treatment. In addition, the journal features articles that describe patient-oriented and cost-benefit health outcomes research. Thus, with peer review by an international Editorial Board and prompt English-language publication, Sleep and Breathing provides rapid dissemination of clinical and clinically related scientific information. But it also does more: it is dedicated to making the most important developments in sleep disordered breathing easily accessible to clinicians who are treating sleep apnea by presenting well-chosen, well-written, and highly organized information that is useful for patient care.
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