Asthma and COPD are chronic airway inflammatory disorders characterized by clinical and pathophysiological heterogeneity. The traditional model of treating asthma and COPD as single entities is now considered outdated due to the increased understanding of their underlying heterogeneity. Patients are currently grouped based on observable combinations of clinical, biological, and physiological characteristics into phenotypes. However, these phenotypes might underlie distinct pathophysiologic mechanisms at a cellular and molecular level. The recent identification of fundamental inflammatory endotypes has provided a more granular approach to studying both asthma and COPD. Despite this progress, our understanding of endotypes, particularly their more severe expressions, remains limited. Genome-Wide Association Studies have provided insights into the genetic basis of complex diseases. The aim of our research application is to study and investigate genetic commonalities and differences among severe asthma patients and severely symptomatic COPD patients. The analysis leveraging on biomedical data from the UK Biobank will help us understand the molecular features characterizing the two selected subpopulations described above. Genome-wide association study (GWAS) data using pathway-specific enrichments from systems biology analysis will support the identification of specific biological pathways relevant to design novel therapeutic approaches. Additionally, we plan to incorporate expression quantitative trait loci (eQTLs) alongside intergenic SNPs, in order to capture the regulatory mechanisms influencing gene expression in asthma and COPD. By characterizing asthma and COPD at a molecular level, we can uncover specific biological pathways and genetic markers that contribute to the diseases’ severity and manifestation.
