Pharmacogenetic Factors Shaping Treatment Outcomes in Chronic Obstructive Pulmonary Disease.

Abstract

Chronic Obstructive Pulmonary Disease (COPD) manifests as a genetically diverse and intricate lung condition with various subtypes. The development of the disease and response to treatment are influenced by the interplay between genetic and environmental factors. The predominant therapeutic approaches include bronchodilator therapy and corticosteroid treatment. Studies in COPD pharmacogenetics involve genome-wide association (GWA) studies, gene profiling, whole-genome sequencing, and other omics-based investigations. Many of these investigations have focused on the association between genetic variations and the response to β2 agonist treatment. Additionally, several studies have explored the impact of gene variations on the response to inhaled corticosteroid (ICS) treatment, with a specific focus on polymorphisms in the glucocorticoid receptor (GR) signaling pathway. However, a significant challenge lies in the inconclusive or inconsistent results of these pharmacogenetic studies, underscoring the research community's struggle to provide sufficient evidence for the clinical implementation of COPD pharmacogenetics. To address these challenges, further research and larger genome-wide studies are essential. These efforts aim to uncover additional COPD subtypes, identify predictors of treatment response, and discover novel genetic markers for COPD. The integration of genomics, detailed evaluations such as chest CT scans, spirometry tests, and blood analyses, along with DNA collection in clinical research, is critical for translating COPD pharmacogenetics into clinical practice. Furthermore, advancing our understanding of the complex interactions between genetics, phenotypes, and environmental factors will be pivotal for improving individualized prognostic assessments and enhancing treatment outcomes in COPD.