Health In Focus
  • Study by The University of Cambridge and The University of London researchers reveals 31 new genes associated with blood pressure and hypertension.
  • Study involved the screening of 347,000 people from many countries with over 200 researchers from 15 countries involved.
  • 3 rare genes found to associated with significant risk for hypertension.

347,000 people were screened to identify 31 new genes associated with hypertension and blood pressure in a study conducted by The University of Cambridge and the Queen Mary University of London (QMUL).

Hypertension and Blood Pressure

The blood carries oxygen that is essential for every cell in the body and blood pressure refers to the pressure exerted by the heart to pump the blood. There are two types of pressure, one that involves the pressure exerted on the walls of the arteries when the heart beats and the blood is pumped while the other is when the heart is at rest between successive beats.
Thirty-One New Genes Identified for Blood Pressure and Hypertension

An increase in blood pressure could exert a lot of pressure on the artery walls and lead to damages to the artery. An elevated blood pressure can lead to
  • Damage to tissues in the artery walls, this damage can lead to the development of scar tissue.
  • The scar tissue could lead to development od blood clots when blood cells get trapped in the scar tissue.
  • Build up of plaques occurs when cholesterol gets trapped in the scar tissue.
  • Additional stress on the circulatory system
Hypertension and increased blood pressure lead to premature risk of death, constituting an increase in the global burden of disease. There are more than 1 billion people who are affected with hypertension across the globe and research on the genes associated with high blood pressure would aid in better treatment through targeted therapy.

New Genes Identified for Blood Pressure

There have been many studies associated with identifying genes for blood pressure but the influence of these genes on elevating blood pressure have been small. However, the current study by Dr. Patricia Munroe and colleagues has identified 31 genes, out of which three genes that rarely occur are found to have considerable effect on blood pressure.

Dr. Patricia details the significance of finding genes associated with hypertension and blood pressure "We already know from earlier studies that high blood pressure is a major risk factor for cardiovascular disease. Finding more genetic regions associated with the condition allows us to map and understand new biological pathways through which the disease develops, and also highlight potential new therapeutic targets. This could even reveal drugs that are already out there but may now potentially be used to treat hypertension."

Participants from Multiple Countries

The University of Cambridge's Dr. Joanna Howson who is the co-author of the study talks about the study that involves participants from across different countries. "The sheer scale of our study has enabled us to identify genetic variants carried by less than one in a hundred people that affect blood pressure regulation. While we have known for a long time that blood pressure is a risk factor for coronary heart disease and stroke, our study has shown that there are common genetic risk factors underlying these conditions," she says.

347,000 people were assessed to understand the association between genes and the risk for blood pressure and hypertension. Healthy individuals were taken as controls along with people with hypertension, coronary artery disease and diabetes. The study participants were from Bangladesh, Pakistan, Norway, U.S.A, Finland, Sweden, Estonia, U.K and Denmark. The study also utilized the services of over 200 investigators from across 15 countries to take part in the research study. This would allow a glimpse into the varied genetic background and the genes associated with risk of hypertension and blood pressure.

Genes Identified

Out of the 31 genes that were identified, three genes which were found to occur rarely, played a significant role in blood pressure.

  • COL21A1 - This gene is involved in the formation of collagen and so is important in many organs like the heart and the aorta.
  • RRAS - This gene has been liked with the 'Noonan Syndrome' that is associated with abnormalities of the heart. It is also involved in the cell cycle processes. COL21A1 and RRAS are of particular significance as they are both associated with the remodeling of the blood vessel which is important in the development of hypertension.
  • RBM47 - The protein that is coded for by this gene is found to modify RNA.
Other significant genes identified in this study was;

ENPEP- This gene codes for an enzyme that is used as a therapeutic agent as it play a significant role in controlling blood pressure by contracting and relaxing the blood vessels.

Benefit of the Study

Identifying genes that are associated with elevating blood pressure or hypertension will aid in:
  • Understanding the mechanism involved in the disease pathway
  • It provides new targets for therapy.
  • It provides a better understanding of the prognosis involved.
  • It removes ambiguity about the cause of the disease and will provide an insight into better management of the disease.
  • It will help evaluate possible transmission to children for increased awareness and care.
  • It provides a better understanding of genetic variation.
The Associate Medical Director from The British heart Foundation that co-funded the study Dr. Jeremy Pearson spoke about the significance of the study "Large scale genetic studies continue to expand the number of genes that may contribute to the development of heart disease, or risk factors such as high blood pressure. But so far most of the genes discovered in these studies individually have only very small effects on risk - though they may still provide valuable clues for new drug targets. This study has increased the number of genes implicated in control of blood pressure to almost 100 and, in the process, has also identified three genes that have larger effects on blood pressure than previously found."

References :
  1. What is High Blood Pressure? - (
  2. Genes that Influence Blood Pressure - (
  3. Genes and Hypertension - (
  4. What are the benefits of genetic testing? - (
Source: Medindia

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