by The University of Cambridge and The University of London researchers
reveals 31 new genes associated with blood pressure and hypertension.
involved the screening of 347,000 people from many countries with over 200
researchers from 15 countries involved.
rare genes found to associated with significant risk for hypertension.
347,000 people were screened to identify 31
new genes associated with hypertension
in a study conducted by The University of Cambridge and the
Queen Mary University of London (QMUL).
Hypertension and Blood
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
‘Identifying high blood pressure genes improves management.’
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
- Build up of plaques occurs when
cholesterol gets trapped in the scar tissue.
- Additional stress on the
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
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.
Out of the 31 genes that were identified,
three genes which were found to occur rarely, played a significant role in
- 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
Other significant genes identified in this
- This gene codes for an enzyme that is used
as a therapeutic agent as it play a significant role in controlling blood
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
- 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
- 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."
- What is High Blood Pressure? - (http://www.heart.org/HEARTORG/Conditions/HighBloodPressure/AboutHighBloodPressure/What-is-High-Blood-Pressure_UCM_301759_Article.jsp#.V9I7dlR97IU)
- Genes that Influence Blood Pressure - (https://www.nih.gov/news-events/nih-research-matters/genes-influence-blood-pressure)
- Genes and Hypertension - (http://hyper.ahajournals.org/content/35/1/164.abstract)
- What are the benefits of genetic testing? - (https://ghr.nlm.nih.gov/primer/testing/benefits)