Variants associated with lung function

Two independent studies identify genetic variants that are associated with measures of lung function. These studies, published this week in Nature Genetics, shed light on the genetic variants that influence pulmonary function.

Measures of lung function are a reliable way to assess the physiological state of the lungs and airways in humans. They are also important predictors of mortality, even in individuals who have never smoked and have modest or no respiratory problems. Two clinically relevant measures of lung function are forced expiratory volume in the first second (FEV1) ― the amount of air that can be exhaled in the first second ― and the ratio of FEV1 to forced vital capacity ― the amount of air that can be exhaled after full inspiration (FEV1/FVC). FEV1/FVC is used as an indicator of whether airflow obstruction is present and FEV1 is typically used to classify the severity of airflow obstruction.

Stephanie London and colleagues analyzed over 20,000 individuals of European ancestry and identified several genetic variants associated with FEV1/FVC and one genetic variant associated with FEV1. Martin Tobin and colleagues analyzed the genomes of a different set of 20,000 individuals of European ancestry. In total, the studies identified six newly replicated loci associated with FEV1 and FEV1/FVC.