Genetics of complex respiratory diseases: implications for pathophysiology and pharmacology studies

Abstract

There has been a huge influx of data on the genetics and genomics of respiratory diseases in the last few years. Powered by large sample sizes from collaborations worldwide, recent genome-wide association studies have convincingly implicated variants in different regions in the genome for association with complex respiratory traits. These new associations have the potential to offer invaluable insight into the pathophysiology of the normal and diseased respiratory system. The functional mechanisms underlying effects of both identified and novel variants will be the focus of research over the next few years. The identification of these mechanisms will not only increase our understanding of disease but may allow the development of new therapies to alleviate respiratory conditions. The implications of these approaches for studies of asthma and Chronic Obstructive Pulmonary Disease are covered in this review.