Pharmacogenetics of chronic obstructive pulmonary disease

Abstract

Chronic obstructive pulmonary disease (COPD) is a complex genetic disease that develops as a result of the interaction of multiple susceptibility genes and environmental factors. Major therapeutic approaches include smoking cessation, treatment with bronchodilators and corticosteroid therapy. The goal of understanding the genetic defects in patients with COPD will be not only to redefine the disease phenotypes based on the genetic information, but also to alternatively approach patients based on the understanding of COPD pathogenesis, which will lead to improved clinical outcomes. Although there is no single ideal phenotype for COPD pharmacogenetic studies, thus far, most pharmacogenetics studies have focused on the role of variants in the β2-adrenergic receptor gene on bronchodilator response. The inconclusive results yielded by these studies highlight many of the difficulties researchers face in assessing the influence of genetic variants and in translating this to clinically relevant outcomes.