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Purpose <p>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.</p> Methods <p>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 &lt; 0.05.</p> Results <p>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.</p> Conclusion <p>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.</p>

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Genetic overlap and immunological pathways in asthma-obstructive sleep apnea coexistence

  • 期刊论文

  • 发表日期：

    2025年5月7日

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  • Maingredy Rodrigues Souza,
  • Mariana Moysés-Oliveira,
  • Allan Saj Porcacchia,
  • Daniela Santoro Rosa,
  • Sergio Tufik,
  • Monica Levy Andersen

摘要

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.