Scientists say new gene variant can cut hypertension risk

People with hypertension take heart: EU-funded scientists have discovered a new gene variant that could lead to better prevention and treatment measures to fight high blood pressure. The research, published in the journal PLoS Genetics, is funded in part by the INGENIOUS HYPERCARE (Integrated genomics, clinical research and care in hypertension) project, which clinched EUR 10 million under the 'Life sciences, genomics and biotechnology for health') Thematic area of the EU's Sixth Framework Programme (FP6).

The scientists said this gene variant not only cuts high blood pressure risk, but can lower people's chances of getting heart disease. They found that people who carry this variant suffer from fewer strokes (down 15%), myocardial infarctions and coronary death. Current data show that 25% of the adult population in the EU suffers from hypertension, which also has the dubious distinction of being the number 1 cause of death worldwide. "Hypertension is a heritable and major contributor to the global burden of disease," the researchers say.

A major genetic study on the global stage, this groundbreaking research brought together experts from across Europe to work together and evaluate more than 500,000 variants throughout the human genome. They investigated 1,621 hypertensive cases and 1,699 controls, and conducted follow-up validation analyses in 19,845 cases and 16,541 controls. They found the variant in a gene that regulates the production by the kidney of uromodulin, a protein excreted in the urine.

Although it was recognised as a major protein in urine, little was known about what uromodulin does. This latest study highlights the protein's key role in the regulation of blood pressure. People who carry the gene variant had less uromodulin in their urine. The findings pinpoint how uromodulin contributes to blood pressure disregulation and helps trigger cardiovascular disease by kick-starting sodium reabsorption in the kidney.

In a nutshell, high blood pressure occurs when the blood flowing through a person's artery walls moves faster and harder than it should. When too much sodium is ingested, the body retains more water and this excess water causes blood pressure to increase inside the blood vessels walls.

Commenting on the results of the study, Research, Innovation and Science Commissioner M√°ire Geoghegan-Quinn said: "I congratulate all those involved in this excellent work. Discoveries stemming from large genetic studies like this can offer new avenues for innovative prevention and treatment, so that each individual gets the best drug for their condition. Healthcare is an absolute priority under the Commission's Innovation Union proposals because nothing matters more than saving lives and alleviating suffering.

"At the same time, the kind of advance the INGENIOUS HYPERCARE project has achieved can in the end also lead to huge economic benefits, by opening new markets for EU companies and helping to keep people active and healthy for longer."

Coordinated by the Milan-based Istituto Auxologico Italiano, the INGENIOUS HYPERCARE consortium consists of experts from Belgium, China, the Czech Republic, Finland, France, Germany, Italy, the Netherlands, Poland, Russia, Spain, Sweden, Switzerland and the UK.

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