Chronic obstructive pulmonary disease (COPD) is characterized by an irreversible airflow limitation in response to inhalation of noxious stimuli， such as cigarette smoke. However， only 15-20 % smokers manifest COPD， suggesting a role for genetic predisposition. Although genome-wide association studies have identified common genetic variants that are associated with susceptibility to COPD， effect sizes of the identified variants are modest， as is the total heritability accounted for by these variants. In this study， an extreme phenotype exome sequencing study was combined with in vitro modeling to identify COPD candidate genes.
Chronic obstructive pulmonary disease (COPD) is characterized by an irreversible airflow limitation in response to inhalation of noxious stimuli， such as cigarette smoke. However， only 15-20 % smokers manifest COPD， suggesting a role for genetic predisposition. Although genome-wide association studies have identified common genetic variants that are associated with susceptibility to COPD， effect sizes of the identified variants are modest， as is the total heritability accounted for by these variants. In this study， an extreme phenotype exome sequencing study was combined with in vitro modeling to identify COPD candidate genes.
