UK study shows how LDTs may one day enable physicians to identify patients genetically predisposed to chronic disease and prescribe lifestyle changes before medical treatment becomes necessary

Could genetic predisposition lead to clinical laboratory-developed tests (LDTs) that enable physicians to assess patients’ risk for specific diseases years ahead of onset of symptoms? Could these LDTs inform treatment/lifestyle changes to help reduce the chance of contracting the disease?

A UK study into the genetics of one million people with high blood pressure reveals such tests could one day exist.

Researchers at Queen Mary University of London and Imperial College London uncovered 535 new gene regions affecting hypertension in the largest ever worldwide genetic study of blood pressure, according to a news release.

They also confirmed 274 loci (gene locations) and replicated 92 loci for the first time.

“This is the most major advance in blood pressure genetics to date. 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,” said Mark Caulfield, MD,

Professor of Clinical Pharmacology at Queen Mary University of London, in the news release. He is also Director of the National Institute for Health Research Barts Biomedical Research Centre.

The researchers believe “this means almost a third of the estimated heritability for blood pressure is now explained,” the news release noted.

Clinical Laboratories May Eventually Get a Genetic Test Panel for Hypertension

Of course, more research is needed. But the study suggests a genetic test panel for hypertension may be in the future for anatomic pathologists and medical laboratories. Physicians might one day be able to determine their patients’ risks for high blood pressure years in advance and advise treatment and lifestyle changes to avert medical problems.

By involving more than one million people, the study also demonstrates how ever-growing pools of data will be used in research to develop new diagnostic assays.

The researchers published their study in Nature Genetics.

The video above summarizes research led by Queen Mary University of London and Imperial College London, which found over 500 new gene regions that influence people’s blood pressure, in the largest global genetic study of blood pressure to date. Click here to view the video. (Photo and caption copyright: Queen Mary University of London.)

Genetics Influence Blood Pressure More Than Previously Thought

In addition to identifying hundreds of new genetic regions influencing blood pressure, the researchers compared people with the highest genetic risk of high blood pressure to those in the low risk group. Based on this comparison, the researchers determined that all genetic variants were associated with:

  • “having around a 13 mm Hg 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.”

“We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation, but also highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future,” the researchers wrote in Nature Genetics.

Other Findings Link Known Genes and Drugs to Hypertension

The UK researchers also revealed the Apolipoprotein E (ApoE) gene’s relation to hypertension. This gene has been associated with both Alzheimer’s and coronary artery diseases, noted Lab Roots. The study also found that Canagliflozin, a drug used in type 2 diabetes treatment, could be repurposed to also address hypertension.

“Identifying genetic signals will increasingly help us to split patients into groups based on their risk of disease,” Paul Elliott, PhD, Professor, Imperial College London Faculty of Medicine, School of Public Health, and co-lead author, stated in the news release. “By identifying those patients who have the greatest underlying risk, we may be able to 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.”

Working to Advance Precision Medicine

The study shares new and important information about how genetics may influence blood pressure. By acquiring data from more than one million people, the UK researchers also may be setting a new expectation for research about diagnostic tests that could become part of the test menu at clinical laboratories throughout the world. The work could help physicians and patients understand risk of high blood pressure and how precision medicine and lifestyle changes can possibly work to prevent heart attacks and strokes among people worldwide.

—Donna Marie Pocius

Related Information:

Study of One Million People Leads to World’s Biggest Advance in Blood Pressure Genetics

Researchers Find 535 New Gene Regions That Influence Blood Pressure

Genetic Analysis of Over One Million Identifies 535 New Loci Associated with Blood Pressure Traits

The Facts About High Blood Pressure

High Blood Pressure Breakthrough: Over 500 Genes Uncovered

Study of a Million People Reveals Hypertension Genes