Genetic Risk for Developing Chronic Obstructive Pulmonary Disease

Chronic obstructive pulmonary disease (COPD), a disorder characterised by chronic airway inflammation and the development of emphysema, results from complex interaction between genetic and environmental factors, most importantly cigarette smoke. Linkage analysis, candidate gene studies, genome-wide association studies, and more recently exome and whole genome sequencing have identified numerous genes and variants linked to COPD susceptibility, smoking behaviour and determinants of lung function. This has led to insights into disease pathogenesis and has the potential to result in novel therapies for the condition. However, the genetic architecture of COPD is complex, and though many susceptibility loci have been identified, they only explain a fraction of disease heritability. Newer methodologies including exome sequencing and whole genome sequencing, and the study of epigenetic and gene-by- environment interactions may uncover some of this missing heritability. The focus of this review will be to assess the role of genetics in individual susceptibility to COPD.