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Genetic data shows smoking and lung disease link

First UK Biobank study yields new findings

Jo Carlowe

Monday, 28 September 2015

The first analyses of genetic data from the UK Biobank reveals new associations with lung disease and smoking behaviour.

In this study,* published in The Lancet Respiratory Medicine, the UK Biobank Lung Exome Variant Evaluation (UK BiLEVE), the authors generated extensive new genetic data in the UK Biobank to investigate the genetic causes of smoking behaviour and lung health.

The study sampled individuals from the UK Biobank with the best, average or the poorest lung function among heavy smokers and never smokers. Using a new genotyping array, which measures over 800,000 genetic variants in each UK Biobank participant, and new methods of analysis of genetic data, they were able to compare lung health and smoking behaviour with both common and rare genetic variations across the whole human genome.

The team, comprising Prof Ian Hall, Queen’s Medical Centre, University of Nottingham, UK, and Prof Martin Tobin, University of Leicester, UK, and colleagues, discovered six independent genetic variants associated with lung health and COPD. They also found genetic variants associated with COPD in people who have never smoked. One of these new signals is the first example of structural variation of the human genome affecting lung health. The team found that the numbers of copies of duplicated sequence of the genome on Chromosome 17 was associated with lung health in heavy smokers and also in never smokers. This, and other findings in the study, point to possible widespread effects on gene regulation and, in turn, protein production. Importantly for the prevention of COPD and other smoking-related diseases, five independent genetic variants were discovered which were associated with heavy smoking.

The authors, who presented their research at this year’s European Respiratory Society (ERS) meeting in Amsterdam, stated: “These findings, taken together with previous findings, will help define pathways underlying predisposition to development of COPD and smoking behaviours. A full understanding of the biological mechanisms underlying these genetic associations will improve our understanding of the pathophysiology of COPD and smoking behaviour, and potentially give rise to novel therapeutic strategies for the management of airway disease and prevention of nicotine addiction.”

They added: “Ultimately, we would like to see improved prevention and treatment of lung disease and these discoveries are important steps towards this ambitious goal.”


* Louise V Wain, Nick Shrine, Suzanne Miller, et al. Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank. Lancet Respir Med 2015, published online 28 September 2015. DOI: 10.1016/S2213-2600(15)00283-0

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