Lung disease: Scientists make genetic breakthrough

October 19th, 2011

Scientists at the University have been involved in the discovery of 16 new sections of the genetic code that relate to lung health, opening up the possibility for better prevention as well as treatment for lung diseases.

An international consortium of 175 scientists from 126 centres in Europe, the USA and Australia identified genetic variants associated with the lung, shedding new light on the molecular basis of lung diseases, such as Chronic Obstructive Pulmonary Disease (COPD).

Researchers say these new pathways — definitely linked to lung function for the first time — could be targeted by drugs.

The pioneering research was led by Professor Martin Tobin, from the University of Leicester, Professor Ian Hall, from The University of Nottingham, and Dr Stephanie London, from the US National Institute of Environmental Health Sciences.

It involved a study of 2.5 million genetic variants in 48,201 people across the world. A smaller number of variants were then studied in a further 46,411 people. The research, published in Nature Genetics, was part-funded by the East Midlands Healthcare and Bioscience iNet (which is part-financed by the European Regional Development Fund), the UK Medical Research Council and the Wellcome Trust.

The study build on earlier research by the authors, bringing the total number of genetic variants associated with lung function to 26. The authors also showed, in research published in the American Journal of Respiratory and Critical Care Medicine, that variants which predict lung function also predict COPD.

Professor Ian Hall, Dean of Nottingham’s Medical School and Professor in Molecular Medicine, said: “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 to develop strategies to use genetic information to improve the clinical care provided to individual patients.”

Professor Martin Tobin, Professor of Genetic Epidemiology and Public Health & MRC Senior Clinical Fellow at Leicester, said: “COPD — a progressive disease that makes it hard for people to breathe — affects around one in 10 adults above the age of 40 and is fourth most-common cause of death worldwide.

“Smoking is the most important risk for developing COPD. Smokers are not all equally likely to develop COPD and differences in susceptibility occur due to the genetic variants people carry.

“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.”

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One Comment

November 8th, 2011 at 10:39 am

Restrictive Lung Disease

This article succinctly describes COPD and IPF. Especially the section on IPF is extremely useful because most people have never heard of it and mistakenly attribute their symptoms, which may be mild at first, to something else. Many physicians are similarly unaware of IPF. I speak from experience! My husband’s doctor told him that his shortness of breath was due to “getting older”. By year 2, when symptoms had worsened,a High Resolution CTScan finally diagnosed IPF. He was fortunate and received a lung transplant one year ago.

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