MRC Human Genetics Unit
Medical Research Council Human Genetics Unit

More than 500 genes are linked to lung health, new study finds

Genomes from over half-a-million participants, including from Viking Genes and Generation Scotland data, were analysed: March 2023

16 weeks post-conception human fetal lung
A 16 weeks post-conception human fetal lung. Image supplied by co-author Emma Rawlins (University of Cambridge), image credit Dr Kyungtae Lim.

The study, published this week in Nature Genetics, is the largest and most ethnically-diverse of its kind.

It's findings pave the way for potential new treatments to tackle conditions such as COPD and asthma, and highlight existing drugs that could potentially be repurposed at speed.

Genomic data from 580,869 participants, including those in the Generation Scotland and Viking Genes cohorts, were incorporated into the study to build up a picture of how our genes affect our lung health.

Establishing which genes are involved in lung function is important to identify targets for medicines to prevent or treat disease. Using a new approach that brings together big data relating to genetic variation, lung health and the influences of genetic variation on gene function, this study has been able to identify 559 new genes implicated in lung function.

Professor Martin Tobin (University of Leicester), who led the study, said: “Our genetic research findings can be used to generate individual risk scores that could personalise medicine. At this stage the risk scores we developed form important tools for further research, but in the future these could help to select which drugs might be most effective for individual patients, and which drugs should be avoided.”

The study combined genomic information from multiple research studies worldwide (including Generation Scotland and Viking Genes) as part of the SpiroMeta consortium and the CHARGE consortium. This provided the researchers with the most ethnically diverse population for this type of study to make their analysis. This is incredibly important to make sure that findings are relevant for the health of the entire global population.


This amazing piece of work is the product of years of collaboration with the SpiroMeta consortium and paves the way to improved understanding and treatment of lung disease.

Professor Caroline HaywardInstitute of Genetics and Cancer, University of Edinburgh



Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk (external)

Caroline Hayward Research Page

Viking Genes

Generation Scotland