Predicting Risk for Chronic Obstructive Pulmonary Disease

Highlights:

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

The 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.

COPD 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 scientists.

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‘Gene markers for Chronic Obstructive Pulmonary Disease (COPD) identified will offer individual based treatment options.’

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Comparing Genetic Variants

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 Leicester.

The 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)

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.

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The 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 £800m annually to the NHS.

Smoking- A Strong Risk Factor

Previous 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.

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There 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.

A 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.

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Associate 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.

Identifying Subtypes

The 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.

British 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.

Genetic 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.

References:

What is COPD? - (http://www.copdfoundation.org/What-is-COPD/Understanding-COPD/What-is-COPD.aspx)

Source-Medindia