Imperial College London

Hundreds of genetic markers linked to blood pressure uncovered


A health worker takes a blood pressure reading from a man's arm

Over 500 new gene regions that influence people’s blood pressure have been discovered in the largest global genetic study of blood pressure to date.

The research, carried out by a team at Queen Mary University of London and Imperial College London, used data from more than one million people and more than triples the number of genetic regions linked to blood pressure to over 1,000.

According to the researchers, the findings mean that almost a third of the estimated heritability for blood pressure is now explained.

Writing in a paper published in Nature Genetics, they report a strong role of these genes, not only in blood vessels, but also within the adrenal glands above the kidney, and in body fat.

High blood pressure is a major risk factor for stroke and heart disease and was responsible for an estimated 7.8 million deaths worldwide in 2015.

While lifestyle risk factors are relatively well-known and include obesity, smoking, alcohol and high salt-intake, high blood pressure is also highly heritable through genetics. Prior to this study however, the genetic architecture of blood pressure had not been well understood.

Genetic markers

“Identifying these kinds of genetic signals will increasingly help us to split patients into groups based on their risk of disease,” said Professor Paul Elliott, Chair in Epidemiology and Public Health Medicine at Imperial and co-lead researcher of the study.

He added: “By identifying those patients who have the greatest underlying risk, we may be able to target them and help them to change lifestyle factors which make them more likely to develop disease, as well as enabling doctors to provide them with targeted treatments earlier, reducing the burden of disease on the health service and increasing people’s quality of life.”

Professor Mark Caulfield from Queen Mary University of London and Director of the NIHR Barts Biomedical Research Centre added: “This is the most major advance in blood pressure genetics to date.

Identifying these kinds of genetic signals will increasingly help us to split patients into groups based on their risk of disease Professor Paul Elliott Co-lead author

In the study, researchers analysed genetic data of more than one million people – including almost 500,000 from the UK Biobank cohort – and cross-referenced the genetic information with their blood pressure data.

By comparing the group with the highest genetic risk of high blood pressure with those in the lowest risk group, the team were able to calculate that all the genetic variants were associated with having around a 13 mmHg higher blood pressure, having 3.34 times the odds for increased risk of hypertension and 1.52 times the odds for increased risk of poor cardiovascular outcomes.

The study indicates some potential new targets for drug development and suggests that some drugs prescribed for other diseases could be repurposed for treating hypertension.

High blood pressure links

For example, one of the newly discovered gene regions is targeted by the type 2 diabetes drug canagliflozin. Repurposing drugs already known to be safe could be a quick and cost-effective way to treat patients who show resistance or intolerance to current therapies.

The team found that some of the new blood pressure genes were already known to be associated with other diseases. For example, the APOE gene is well known for its association with Coronary Artery Disease and Alzheimer’s Disease, but this is the first time that it has been detected as having an effect on blood pressure.

Professor Caulfield explained: “We now know that there are over 1,000 genetic signals which influence our blood pressure. This provides us with many new insights into how our bodies regulate blood pressure, and has revealed several new opportunities for future drug development.

“With this information, we could calculate a person’s genetic risk score for high blood pressure in later life. Taking a precision medicine approach, doctors could target early lifestyle interventions to those with a high genetic risk, such as losing weight, reducing alcohol consumption and increasing exercise.”

The study was funded by the National Institute for Health Research, the Medical Research Council, British Heart Foundation, and US National Institute for Health and the Veterans Administration.

This article is based on materials provided by Queen Mary University of London.

‘Genetic analysis of over one million people identifies 535 novel loci for blood pressure’ by Evangelos Evangelou et al. is published in Nature Genetics. DOI: 10.1038/s41588-018-0205-x

See the press release of this article


Ryan O'Hare

Ryan O'Hare
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