New discoveries in the genetics of lung health

15 Jun 2014 18:00:00.000


Scientists have discovered six new regions of the genetic code that relate to lung health -  opening up the possibility for better prevention as well as treatment for a range of lung diseases.

Researchers from The University of Nottingham and the University of Leicester are co-leaders of a global consortium of 134 centres in the UK, Europe, the USA and Australia which has identified new genetic variants associated with lung health.

The discovery could shed new light on the molecular basis of a range of different lung diseases including pulmonary fibrosis. It is the first time that these six common genetic variants have been definitely linked with lung function. Researchers say the new pathways discovered could be targeted by drugs. 

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Genetic treasure hunt

The study was led by Professor Ian Hall from The University of Nottingham, Professor Martin Tobin from the University of Leicester, and Dr Stephanie London from the U.S. National Institute of Environmental Health Sciences. It is published today in Nature Genetics, and was part funded by the UK Medical Research Council (MRC).

The pioneering research involved a genetic study of 2.5 million genetic variants in each of 52,253 people across the world. All participants in the study had a measure of lung health, called the forced vital capacity. This measure is altered in some lung diseases and may be markedly reduced in restrictive lung diseases, such as pulmonary fibrosis. A smaller number of the most promising variants were then studied in a further 32,917 individuals.

Global collaboration

Professor Ian Hall, Dean of the Faculty of Medicine and Health Sciences at The University of Nottingham and Professor of Molecular Medicine said: “These important findings extend our knowledge of the genetic factors which determine lung function and help us understand their contribution to the risk of developing respiratory diseases.  This work is part of an extensive programme of research which aims to comprehensively define the major genetic factors underlying common lung diseases: this programme is based around a long term collaboration led from the Universities of Leicester and Nottingham which brings together many partners around the world.”

Professor Martin Tobin, Professor of Genetic Epidemiology and Public Health & MRC Senior Clinical Fellow at the University of Leicester, said: “There is an overlap between the genetic factors that affect lung function measures in healthy populations and those that affect the risk of lung diseases, such as pulmonary fibrosis and chronic obstructive pulmonary disease (COPD). We aim to follow up these findings in large studies of patients with pulmonary fibrosis and other types of lung disease. These types of study are already planned through collaborations between the Universities of Leicester and Nottingham.”

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Lung function is commonly expressed using two measures recorded using a simple device called a spirometer. These measures are termed the FEV1 (or forced expiratory volume in 1 second) which is the volume of air that can be breathed out in 1 second, and the FVC (forced vital capacity) which is the total volume of air that can be breathed out. A reduced ratio of FEV1 to FVC can indicate airway obstruction. A decreased measure of FVC can indicate restrictive lung disease, as is seen in pulmonary fibrosis.

The genetic determinants of pulmonary fibrosis can be studied by investigating the genetic variants which are more common in patients with advanced pulmonary fibrosis.  It is challenging to recruit into clinical studies thousands of patients with advanced pulmonary fibrosis because the disease is relatively uncommon. This study investigated lung function measures in tens of thousands of mostly healthy individuals so that the newly discovered molecular pathways could be studied further in patients with the disease. Such studies will be needed to definitively show which of these risk factors in healthy populations are also relevant in causing advanced disease.

In pulmonary fibrosis, the build-up of scar tissue in the lung impairs lung expansion and reduces oxygen exchange. A patient with pulmonary fibrosis would feel short of breath, especially when exercising. Pulmonary fibrosis is part of a group of diseases called interstitial lung diseases – diseases that affect the network of tissue that supports the air sacs (alveoli) of the lung. The causes of pulmonary fibrosis are poorly understood, although it is known that genetic factors, autoimmune diseases and environmental exposures can increase the risk of pulmonary fibrosis.

In chronic obstructive pulmonary disease (COPD), which encompasses chronic bronchitis and emphysema, narrowing of the airways causes a disproportionate reduction in FEV1. Cough, phlegm and shortness of breath are common symptoms of COPD. The simplest way to diagnose COPD is through spirometry, which is usually available in general practitioners’ surgeries. Although there is no cure for COPD, stopping smoking and treatments can improve symptoms and reduce the impact of COPD on exercise and daily activities. Drug treatments include bronchodilators and, for exacerbations, may include short-term steroids. Patients with COPD are more susceptible to serious lung infections, so flu vaccination each winter is important.

The genetic determinants of COPD can be studied by investigating the genetic variants that affect the risk of developing COPD itself or by studying lung function itself, on which the diagnosis of COPD is based.  Reduced lung function may also occur in patients with other airway diseases such as asthma.

Further research will be needed to study in detail the molecular alterations in the lung that result from the genetic variants identified, and to investigate whether these might be targeted by drugs. 

The Medical Research Council has been at the forefront of scientific discovery to improve human health. Founded in 1913 to tackle tuberculosis, the MRC now invests taxpayers’ money in some of the best medical research in the world across every area of health. Twenty-nine MRC-funded researchers have won Nobel prizes in a wide range of disciplines, and MRC scientists have been behind such diverse discoveries as vitamins, the structure of DNA and the link between smoking and cancer, as well as achievements such as pioneering the use of randomised controlled trials, the invention of MRI scanning, and the development of a group of antibodies used in the making of some of the most successful drugs ever developed. Today, MRC-funded scientists tackle some of the greatest health problems facing humanity in the 21st century, from the rising tide of chronic diseases associated with ageing to the threats posed by rapidly mutating micro-organisms.

The British Lung Foundation is the only UK charity fighting to help the one in five people in the UK affected by lung disease, by researching new treatments, campaigning for better awareness and services, and providing support and advice for patients, carers and family members. For further information, please visit For help and support, call the BLF Helpline on 03000 030 555. To donate £5 to help the BLF fight lung disease, please text LUNGS to 70500. Follow us on Twitter at or join us on Facebook at

The National Institute for Health Research (NIHR) is funded by the Department of Health to improve the health and wealth of the nation through research. Since its establishment in April 2006, the NIHR has transformed research in the NHS. It has increased the volume of applied health research for the benefit of patients and the public, driven faster translation of basic science discoveries into tangible benefits for patients and the economy, and developed and supported the people who conduct and contribute to applied health research. The NIHR plays a key role in the Government’s strategy for economic growth, attracting investment by the life-sciences industries through its world-class infrastructure for health research. Together, the NIHR people, programmes, centres of excellence and systems represent the most integrated health research system in the world. For further information, visit the NIHR website ( 

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Notes to editors: The University of Nottinghamhas 43,000 students and is ‘the nearest Britain has to a truly global university, with campuses in China and Malaysia modelled on a headquarters that is among the most attractive in Britain’ (Times Good University Guide 2014). It is also the most popular university among graduate employers, the world’s greenest university, and winner of the Times Higher Education Award for ‘Outstanding Contribution to Sustainable Development’. It is ranked in the World's Top 75 universities by the QS World University Rankings.

Impact: The Nottingham Campaign, its biggest-ever fundraising campaign, is delivering the University’s vision to change lives, tackle global issues and shape the future. More news…

Story credits

More information is available from Professor Ian Hall, Faculty of Medicine and Health Sciences, The University of Nottingham 

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