Pharmacogenetics of chronic obstructive pulmonary disease: challenges and opportunities

Abstract

Similar to other common chronic diseases, chronic obstructive pulmonary disease (COPD) is a heterogeneous disorder with multiple disease subtypes. Candidate gene studies have found genetic associations for COPD-related phenotypes that may be relevant for pharmacogenetics studies, including lung function decline and COPD exacerbations. However, few COPD pharmacogenetics studies have been completed. Most studies have focused on the role of variants in the beta(2)-adrenergic receptor gene on bronchodilator response, but the findings have been inconclusive. Candidate gene studies highlight the concept that genes for COPD susceptibility may also be relevant in COPD pharmacogenetics. Currently, there are no clinical applications of pharmacogenetics to COPD therapy, but the use of pharmacogenetics to determine initial smoking cessation therapy may be closer to clinical application.

Figure 1. Chronic obstructive pulmonary disease heterogeneity is relevant to pharmacogenetics

Treatment X is effective in chronic obstructive pulmonary disease patients with airway disease but not emphysema. SNPs 3 and 4, both of which are associated with airway disease, will appear to be determinants of treatment response if chronic obstructive pulmonary disease subtypes are not considered or are unknown.