Dissecting respiratory disease heterogeneity through the genetics of diffusing capacity

Genome-wide association studies (GWASs) have allowed the robust and replicable identification of novel genomic regions associated with respiratory diseases. For instance, in chronic obstructive pulmonary disease (COPD), nearly all of the described genetic risk regions were not previously known to play a role in COPD pathogenesis [1–9]. However, where sample size is critical to discovery of new genetic risk regions in GWASs, large GWASs of lung function (and lung function extremes) in the general population have made great strides in describing the genetic risk regions contributing to the observed population variability in spirometry, and in risk of COPD [10–16]. Interestingly, the genetic risk regions contributing to the observed population variability of forced expiratory volume in 1 s (FEV1) and FEV1 to forced vital capacity (FVC) ratio can be aggregated into genetic risk scores which are predictive of COPD [14, 16, 17].
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Editorials Source Type: research