Completed Lungs & Breathing Genetics & Molecular Biology

A program of research in respiratory and cardiovascular genetic epidemiology

In plain English

AI plain-English summary

Two common adult conditions—chronic obstructive pulmonary disease and high blood pressure—affect millions in the UK, yet their underlying genetic causes remain poorly understood. This programme compares lung function and blood pressure measurements from tens of thousands of participants against millions of genetic variants across the human genome, searching for the DNA differences that contribute to these disorders. The problem is that current treatments for COPD and hypertension are often blunt instruments, managing symptoms rather than targeting root causes. By pinpointing specific genes involved, researchers can then study how these variants influence lung growth, age-related decline, smoking effects, and drug responses. Similar work on blood pressure will also test whether modifiable factors like folate deficiency genuinely drive hypertension. If successful, this research will not produce a simple genetic test for individual risk—the variants are too weak for that. Instead, it will reveal the biological pathways that actually cause these diseases. That knowledge could guide development of more effective preventions and treatments, potentially shifting how clinicians manage two of the most widespread chronic conditions in the UK. The work is fundamentally curiosity-driven, but with a clear path toward practical medical insight.

View original technical description
Chronic obstructive pulmonary disease and high blood pressure affect a high proportion of adults in the UK. This program, involving collaborators from several UK and international centres, aims to identify the genetic causes of these disorders. By comparing measures of lung function in tens of thousands of individual study participants for variants at each of millions of different sites across the human genome, we can identify variants associated with lung disease. We will study the impact of these variants in more detail, examining their effect on lung growth, on decline in lung function with age or with disease, on effects of smoking and on response to treatment. Similar discovery and follow-up studies will be undertaken for blood pressure. We can also use the identified genetic variants to tell us more about modifiable non-genetic influences on disease, such as whether dietary deficiency in folate causes high blood pressure. In most cases, we do not expect these variants to accurately predict an individual‘s risk of developing disease, but we do expect the genes identified to give important clues about how the diseases are caused and advance our understanding of how they might be more effectively prevented and treated.

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Researchers

Martin Tobin (Principal Investigator)

Related Research

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A program of research in cardiovascular genetic epidemiology
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Original classification

Fellowship

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