0036 Exploring Common Genetic Factors Between Obstructive Sleep Apnea and Asthma: Insights into Inflammatory Pathways

Abstract Introduction Obstructive sleep apnea (OSA) and asthma are globally prevalent respiratory disorders that share risk factors, symptoms and pathophysiological mechanisms. Emerging evidence suggests a bidirectional relationship, with each condition having a negative impact on the clinical course of the other. Although both diseases have a strong hereditary component, research assessing the genetic basis of their co-occurrence remains limited. Thus, the aim of this study was to analyze the interaction of risk genes and common biological pathways between OSA and asthma. Methods Two sets of genes associated with OSA (2,159 genes) and asthma (786 genes) were manually curated from significant single nucleotide polymorphisms (SNP) revealed in genome-wide association studies (GWAS). These lists were subsequently compared to identify intersecting genes, and the statistical significance of the overlap 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 There were 187 overlapping genes between OSA and asthma gene sets, indicating a significantly higher occurrence than expected by chance (p 1.07E–29; odds ratio=2.3). The pathway overrepresentation analysis of these intersecting genes identified processes associated with immune system functions, encompassing human leucocyte antigen (HLA), antigen presentation, T cell differentiation, cell signaling, and positive regulation of inflammatory mediators. Conclusion The shared genetic basis between OSA and asthma suggests dysregulation of the immune response and pro-inflammatory processes as underlying pathophysiological mechanisms contributing to the susceptibility and manifestation of these comorbid conditions. Support (if any) Associação Fundo de Incentivo à Pesquisa (AFIP); Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP), and Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq).