- Biggest genetics study for lung diseases that involved over 100
scientists from over 13 countries.
- The scientists
studied 24 million differences in genetic alteration to understand and
identify a more accurate method of predicting Chronic Obstructive
Pulmonary Disease (COPD)
- Study assessed
the risk associated with smokers and the development of COPD. Cessation of
smoking found to reduce COPD risk in 5 out of 10 people with an increased
genetic risk of developing chronic obstructive pulmonary disease (COPD) was
studied in a huge multi-country research study that involved scientists from
over 13 countries. Stated to be the world's biggest study that involved
assessing the genetic make-up of an individual and the risk of developing COPD
could aid in the accurate prediction of gene based disease risk.
is a very severe lung disease that is the third most common cause of death in
the world. This study was published in the journal Nature Genetics
and involved 350,000 people and over a 100
‘Gene markers for Chronic Obstructive Pulmonary Disease (COPD) identified will offer individual based treatment options.’
About 24 million genetic variants associated with chronic obstructive
pulmonary disease were studied by a research team spread across 13 countries
and lead by scientists from the University of Nottingham and the University of
study found that:
- The high risk
group had a 3.7 times higher risk of developing COPD when compared with
individuals who belonged to the low risk group.
- Smokers are known
to have a higher risk of developing COPD
- In genetically
prone people who smoke, 72 of 100 could develop COPD during their lifetime
- The number of
genetic variants that are known to be associated with COPD and other lung
disease has doubled
The genetic variants that were identified
could aid in a more accurate method of disease prediction and will also aid in
offering personalized treatment and assist in identifying high risk groups.
Chronic Obstructive Pulmonary Disease (COPD)
is a broad term that is
used to describe lung diseases that are progressive, including refractory
(non-reversible) asthma, chronic bronchitis and emphysema. The symptoms of the
disease include breathlessness, wheezing, frequent coughs and chest tightness.
shortness of breath and coughing seen in COPD are sometimes falsely thought to
be due to the normal process of aging, resulting in the development of COPD for
many years. The symptoms develop during the advanced stages of the disease. More
than 900,000 people in the UK are believed to be suffering
from this disease with a medical cost of Ģ800m annually to the NHS.
Smoking- A Strong Risk Factor
studies have shown a marked association of smoking with the development of COPD
but not everyone diagnosed with this disease condition smokes, and not all smokers develop this condition. This could be
attributed to individual disparity based on the genetic variants that are
inherited. The current study explored these genetic variants that pre-disposed
the development of COPD.
is currently no drug therapy for the treatment of COPD which limit or alter the
progress of the disease. The genetic variants that have been identified by the research
team are associated with poor prognosis of the lung function among smokers as
well as nons-mokers. This could aid in the
development of new treatment methodologies.
professor from the University of Leicester, Dr. Martin Tobin who was also the co-author
of the study said that the findings have identified proteins that could be new
targets of drug therapy for COPD. The proteins are already targeted in certain
other diseases and for which drugs already exist, so it could mean that
pre-existing drugs could now offer a possible method of treatment for COPD. The
professor also stated that there will now be a better method of prediction of
people who are susceptible for COPD, which can be used to provide
interventional strategies for prevention like cessation of smoking.
Professor at the University of Leicester in Genetic Epidemiology, Dr. Louise
Wain, led the team of analysts and said that the study highlighted the
importance of the UK Biobank study and the relevance of 'big data' in identifying
discoveries that could improve health. The study involved large data sets that
were brought together by skilled analysts and involved the use of high
throughput computing facilities.
significance of the study was not only associated with identifying genetic risk
factors, but also in determining
subtypes of COPD, which would respond to
treatment differently. Certain individuals would respond to some treatment
methods while the same treatment may be ineffective in others.
Lung Foundation's Dr.Ian Jarrold who is the Head of Research said that COPD was
a devastating disease that affected the lives of people afflicted with this
condition. An insight into the development of this condition, people who are
susceptible and the identification of new and effective treatment strategies
could improve the condition of patients dramatically. The current study,
according to the senior scientist, is a conclusive step towards a more potent
treatment, while also identifying methods of prevention.
variant analysis will aid in providing personalized medicine and care for
people with COPD while also identifying people at high risk. Smokers who are in
the high risk group can be counseled to quit
smoking in order to lower risk for the disease. Such studies are a conclusive
step towards better medical care.
- What is COPD? - (http://www.copdfoundation.org/What-is-COPD/Understanding-COPD/What-is-COPD.aspx)