PA168/14
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.
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.”
— Ends —
NOTE TO NEWSDESKS
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. www.mrc.ac.uk
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 www.blf.org.uk.
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 http://twitter.com/lunguk or
join us on Facebook at http://www.facebook.com/britishlungfoundation
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 (www.nihr.ac.uk).
— Ends —
Our academics can now be interviewed for broadcast via our new Globelynx fixed camera facility at the University. For further information please contact a member of the Communications team on +44 (0)115 951 5798, email mediahub@nottingham.ac.uk or see the Globelynx website for how to register for this service.
For up to the minute media alerts follow us on Twitter
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…