The genetics of smoking behaviour and lung disease

Samples reveal specific genetic signals that determine a person’s risk for tobacco addiction and lung damage from smoking.


©Cultura Creative (RF) / Alamy Stock Photo

Many smokers suffer severe airflow obstruction, or chronic obstructive pulmonary disease, (COPD), while others who smoke may not become as ill. Some people seem to get hooked after a few cigarettes, while others do not. Researchers have long sought to understand these differences, and a new study of the genetics of smoking behaviour, lung function and COPD is offering clues.

Biomolecular scientist Ian Hall, from the University of Nottingham, and a team of international researchers analysed genetic data from 50,008 samples stored at the UK Biobank. The chosen samples were from smokers and those who have never smoked, each group including similar numbers of people with low, average and high respiratory function. Lung function is measured with an instrument, called a spirometer, that measures the amount of air exhaled with force after inhaling as deeply as possible. The team found common genetic causes for low lung function in never-smokers and heavy smokers and in people with and without asthma.

They found six new genetic variations associated with extremes of lung function that were also associated with COPD, including in individuals with no history of smoking. These variations determine how the lungs develop and how they are damaged and therefore who gets more severe lung disease how early in life, Hall explains.

“The team also identified five new genetic signals for smoking behaviour,” he says. Certain genetic variations relate to nicotine receptors in the brain and how they affect the reward pathway and addiction. They identified one genetic region that appears to regulate the expression of a number of other genes and may act like a master switch, Hall says.

“This genetic information can potentially help us target at-risk individuals with treatment to help people stop smoking,” he says.

“While this information may in the future be used to build a risk profile based on genetic variations, the public health message is not that it is OK to continue smoking even if you are in a lower risk group; as there are many other health risks related to smoking,” Hall says.


  1. Wain, L.V.,  Shrine, N., Miller, S., Jackson, V.E., Ntalla I., Hall, I. 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. The Lancet Respiratory Medicine (2015). | article

Read this next

An instigator for immunodeficiency

A genomic survey of immunodeficient patients reveals a gene with an important role in fending off infection and controlling inflammation

MAT Deficiency: Wider effects of a rare disease

A case of a rare childhood disease reveals a new mutation as underlying cause and  identifies unknown manifestations of the disease on the skin and hair.

Searching for answers surrounding autism

Replicating a gene linked to autism in a monkey model could shed light on its underpinnings.