Genes behind lung disease in smokers decoded

British researchers have discovered six independent genetic variants associated with lung health and Chronic Obstructive Pulmonary Disease (COPD) -- revealing association with lung disease and smoking behaviour.

They also found genetic variants associated with COPD in people who have never smoked. "Understanding the genetic basis of airflow obstruction and smoking behaviour is key to determining the mechanisms which cause COPD," said Professor Ian Hall from Queen's Medical Centre at University of Nottingham.

Hall, along with professor Martin Tobin from University of Leicester and colleagues 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 participant, the researchers were able to compare lung health and smoking behaviour with both common and rare genetic variations across the whole human genome. One of these 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.

For the prevention of COPD and other smoking-related diseases, five independent genetic variants were also discovered which were associated with heavy smoking. "These findings, taken together with previous findings, will help define pathways underlying predisposition to development of COPD and smoking behaviours," the authors noted.

This will potentially give rise to novel therapeutic strategies for the management of airway disease and prevention of nicotine addiction. (The research was published in the journal The Lancet Respiratory Medicine.)