EU-funded researchers gain insights into genetics of lung functioning

A large-scale study has identified five new genetic loci (points on the genome) associated with the health of the human lung and pulmonary function. Publishing in the latest edition of the journal Nature Genetics, the partly EU-funded researchers explain that their findings shed new light on the molecular basis of lung disease and might lead to better treatment of chronic obstructive pulmonary disease (COPD), asthma and similar conditions.

The researchers studied samples from more than 20,000 people, mapping specific loci linked to two clinically relevant measures of lung function. Those measures are forced expiratory volume in the first second (FEV1), which represents the amount of air that can be exhaled in the first second, and the ratio of FEV1 to forced vital capacity (FVC). FVC stands for the amount of air that can be exhaled after full inspiration.

From a clinical point of view, both measures are important indicators of population morbidity and mortality and form the diagnostic basis for COPD. It is also a well-known fact that pulmonary function is in part determined by genetic factors. The research, conducted by 96 scientists in Europe and Australia and led by Dr Martin Tobin of the University of Leicester, UK, and the University of Nottingham's Professor Ian Hall, pinpointed five genetic loci that play a role in the functioning of the lungs. These loci were observed in the whole population and were not specific to smokers, for instance.

In addition, three of the loci were also identified in a second study, published in the same edition of Nature Genetics. The work of the CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) consortium is based on a different, but equally large set of samples and thus corroborates some of the findings of Dr Tobin and his colleagues.

"This work is important because until now we have known very little about the genetic factors that determine an individual's lung function," the researchers say. "By identifying the genes important in determining lung function, we can start to unravel the underlying mechanisms which control both lung development and lung damage. This will lead to a better understanding of diseases such as ... COPD and asthma. Crucially, it could open up new opportunities to manage and treat patients with lung conditions."

The scientists add: "A large reduction in lung function occurs in ... COPD, which affects around 1 in 10 adults above the age of 40 and is thought to be the 4th most common cause of death worldwide. Smoking is the major risk factor for development of COPD. Lung function and COPD cluster within families, indicating that variations in genes also predispose individuals to reduced lung function."

Both studies were partly funded by the EU through the following projects: EURO BLCS (Biological, clinical and genetic markers of future risk of cardiovascular disease) and GENOMEUTWIN (Genome-wide analyses of European twin and population cohorts to identify genes in common diseases), both funded under the Fifth Framework Programme (FP5); GABRIEL (A multidisciplinary study to identify the genetic and environmental causes of asthma in the European Community) and EUROSPAN (European special populations research network: quantifying and harnessing genetic variation for gene discovery), both supported through the Sixth Framework Programme (FP6); and GEFOS (Genetic factors for osteoporosis), a project that is part of the Seventh Framework Programme (FP7).

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