Recent advances in the genetics and genomics of asthma and related traits

Asthma is a complex phenotype caused by a combination of genetic and environmental factors that remain poorly understood. The common variants involved in the pathogenesis of asthma have proved difficult to identify by candidate gene association studies. Recently genome-wide association (GWA) studies have been applied to asthma with considerable success.

The past 12 months have seen some notable advances in the genetics of asthma including five GWA studies using asthma status as an endpoint, as well as one chronic obstructive pulmonary disease study and five GWA studies of intermediate phenotypes, one each on serum immunoglobulin E (IgE) levels, blood eosinophil counts and three on lung function as measured by spirometry. There have also been several publications on the previously reported asthma locus on 17q21 replicating the association in multiple populations and showing specific association in patients with early tobacco smoke exposure and with early-onset asthma as well as with nonatopic asthma.

A wealth of genetic data has been generated on asthma since the publication of the first GWA study in 2007 resulting in the identification of a novel asthma locus as well as novel loci for lung function, eosinophil count and IgE levels. In this review we summarize the most pertinent of these advances.