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Multiple genetic discoveries from major international EU-funded lung study

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Scientists have discovered 16 new sections of the genetic code associated with lung function as part of an international study funded by no less than 7 EU-funded projects.


Published in the journal Nature Genetics, the study brought together 175 scientists across 126 research centres around the world.

The discovery of these new genetic variants associated with the health of the human lung could shed more light on the molecular basis of lung diseases like Chronic Obstructive Pulmonary Disease (COPD) and in turn lead to better prevention strategies and new types of treatment.

COPD is a progressive disease that makes it hard for people to breathe and it affects around 1 in 10 adults over 40 and is the fourth most common cause of death worldwide. Although smoking is the biggest cause of COPD, not all smokers are equally likely to develop COPD and differences in susceptibility occur due to the genetic variants people carry.

One of the study authors, Professor Martin Tobin from the University of Leicester, comments on the study's implications for COPD detection: 'For the first time we understand what so many of these genetic variants are, including the underlying mechanisms that they point to. We now need to prioritise research to better understand these disease mechanisms and inform improved patient care. These discoveries could provide the key to new therapies for lung diseases such as COPD. It is too early to say whether this information would be of use as a screening test to predict the development of COPD. Stopping smoking is the best way to prevent COPD.'

The study involved an analysis of 2.5 million genetic variants in 48,201 people from around the world. The team then honed in on their work by focusing on a smaller number of the most promising genetic variants in a further 46,411 individuals. This new discovery builds on previous work published last year where the international team announced the discovery of 10 new genetic variants associated with lung function.

Under the EU's Seventh Framework Programme's (FP7) 'Health' Theme, the study received EUR 11 924 660 of funding from the TREAT OA ('Translational research in Europe applied technologies for osteoarthritis') project and EUR 12 million from the ENGAGE ('European network for genetic and genomic epidemiology') project, as well as EUR 2 998 650 from the GEFOS ('Genetic factors for osteoporosis') project.

As part of the Sixth Framework Programme's (FP6) 'Life sciences, genomics and biotechnology for health' Thematic area, the study was boosted by EUR 11 327 585 from the GABRIEL ('A multidisciplinary study to identify the genetic and environmental causes of asthma in the European Community') project and EUR 2.4 million from the EUROSPAN ('EUROpean Special Populations reseArch Network: quantifying and harnessing genetic variation for gene discovery') project.

Funding for the study also came from the Fifth Framework Programme's (FP5) Specific Programme 'Quality of life and management of living resources', with EUR 1 372 967 from the EURO-BLCS ('Biological, clinical and genetic markers of future risk of cardiovascular disease') project and EUR 13 695 532 from the GENOMEUTWIN ('Genome-wide analyses of European twin and population cohorts to identify genes in common diseases') project.

Another study author, Professor Ian Hall, says: 'This work is important because until recently we have not understood the factors which underlie inherited variability in lung function. The very large genetic studies required to identify key genes would not have been possible without the support of many groups around the world and the input of thousands of subjects. We now need to take the knowledge gained from this study to do two things: firstly to learn more about the function of genes which contribute to the risk of developing lung diseases such as COPD, and secondly to try and develop strategies to use genetic information to improve the clinical care provided to individual patients.

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