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Genes linked to high blood pressure identified

26 November 2012
Appeared in BioNews 683

Genetic variants that affect proteins involved in making aldosterone and cortisol, hormones that regulate the circulatory system, have been identified as risk factors for hypertension, or high blood pressure.

Hypertension has long been understood as a disease caused by both genetic and environmental factors. However, as Professor John Connell, from the University of Dundee, who led the study, says, 'it has proved very difficult to identify genetic causes of hypertension. But this research shows that a gene variation that is present in around 40 percent of the population is a significant factor'.

The discovery may have more immediate implications for treatment than is often the case in genetic research. 'Drugs targeting aldosterone are already used in the treatment of hypertension, so this study emphasises that these should be more widely used', says Professor Connell.

'We know that the effects of aldosterone are amplified by a high salt diet, so this could give an important clue to an interaction between a common genetic variation and the environment', he added.

The study, published in the journal Hypertension, used data collected from 5,900 patients in the UK and Scandinavia. The results lend weight to a theoretical model which previously suggested that carriers of the genetic variants would have a higher risk of developing hypertension.

'One of the extremely satisfying aspects of this research has been that we have been able to take that theory all the way through to firm findings that show how the gene variation leads to altered function', said Professor Eleanor Davies, lead investigator from the University of Glasgow.

According to the Health Survey for England 2010 nearly a third of the general population have hypertension. Although high blood pressure can often be controlled with medication it remains a major risk factor for heart attacks, stroke and heart failure.

Professor Connell said that his team were now looking 'to carry out further research, particularly with regard to the importance of genetically determined variation in aldosterone in other forms of cardiovascular disease'.

Common Polymorphisms in the CYP11B1 and CYP11B2 Genes: Evidence for a Digenic Influence on Hypertension
Hypertension |  12 November 2012
Dundee and Glasgow universities uncover blood pressure genes
BBC News |  22 November 2012
Health Survey for England 2010
NHS (pdf) |  15 December 2011
High blood pressure gene link
Herald Scotland |  23 November 2012
Research identifies a genetic cause of hypertension
University of Dundee (press release) |  22 November 2012
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Correction ( - 26/11/2012)
"Mutations in the genes for aldosterone and cortisol, hormones that regulate the circulatory system, have been identified as risk factors for hypertension, or high blood pressure." This is incorrect. Cortisol and aldosterone are hormones, not proteins. Therefore there are no genes for cortisol and aldosterone. What the study looked at is genes encoding proteins in the steroid biiosynthetic pathway, CYP11B1 and CYP11B2. It is thought that genetic variant in these genes influence the biosynthesis of the steroids and therefore the risk of hypertension. But these are not "genes for cortisol and aldosterone", they are genes encoding proteins responsible for their synthesis.
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