Completed Lungs & Breathing Genetics & Molecular Biology

Defining the genetic contribution and functional role to altered lung function of genes identified by GWAS meta-analysis

In plain English

AI plain-English summary

Every year, 30,000 people in the UK die from COPD, a lung disease that slowly suffocates them. The condition is strongly linked to smoking, but genetics also plays a role—some people are simply more vulnerable than others. Researchers have already identified three specific genes—GSTCD, HTR4, and AGER—that are risk factors for abnormal lung function and COPD. What remains unknown is exactly how variations in these genes alter the lungs’ workings. This project aims to close that gap. The team will investigate what these genes actually do in lung tissue and how different genetic variants change lung function. If they succeed, the work could lead to a clearer biological understanding of why some smokers develop COPD while others do not. That knowledge could eventually inform which patients are most at risk, or point toward new drug targets for a disease that currently has no cure—only symptom management. For now, this is fundamental science: it will not immediately change clinical practice, but without knowing how these genes act, efforts to prevent or treat COPD will remain blunt instruments.

View original technical description
Chronic obstructive pulmonary disease (COPD) is a common cause of illness, occuring mostly in smokers, which results in worsening cough and breathlessness and which is responsible for 30,000 deaths per year in the UK. It is recognised that genetics plays a role in the development of COPD, and recently we have identified that genetic variants in three genes called glutathione S transferase CD (GSTCD), HTR4 and AGER are risk factors for the development of abnormal lung function and COPD. The aims of this programme of research are to find out the role of these genes in the lungs, to determine how genetic variability in these genes alters lung function, and to assess how different genetic variants contribute to the development of airways disease focusing initially on COPD.

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Researchers

Ian Hall (Principal Investigator)Ian Sayers (Co-Investigator)Martin Tobin (Co-Investigator)

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Original classification

Research Grant

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