Common gene mutation is linked to hypertension risk
By Sanjay Tanday, 20 February 2009
Hypertension - Research could lead to new preventive therapies.
The first common gene variant linked to an increased risk of hypertension has been discovered, in a move that could pave the way for new therapies, say US researchers.
The study identified variants in genes for proteins which are involved in the cardiovascular response to stress and also appear to influence BP levels.
In order to find hypertension-associated variants, the researchers focused on two genes, called NPPA and NPPB, which have been linked to hypertension in animal studies.
The genes are responsible for the production of the stress markers atrial and B-type natriuretic peptides (ANP and BNP).
The researchers analysed genetic data from 1,700 participants in the Framingham Heart Study for the presence of 13 common variations in the NPPA and NPPB genes, looking for any correlation with levels of the stress markers ANP and BNP.
The findings were then validated in two further studies involving participants from Sweden and Finland. This increased the total number of participants in the overall study to 29,717.
A variant, called rs5068, was found on the NPPA gene and was present in almost 90 per cent of the population.
This variant was associated with a 20 per cent reduction of ANP levels and an 18 per cent increased risk of developing hypertension.
A second variant, rs198358, was also identified with a similar but less pronounced effect on ANP and BP.
Lead researcher Dr Thomas Wang, an expert in cardiovascular disease from the Massachusetts General Hospital in Boston, said: 'Natriuretic peptides are known to be produced by the heart when it is stressed, and screening for peptide levels is widely used to diagnose heart failure, a condition in which they are sharply elevated.
'It is currently premature to advocate screening natriuretic peptide levels or gene variants, but someday it may be possible to treat natriuretic-peptide deficient individuals with therapies that restore normal levels and reduce risk.'
Fellow researcher Dr Christopher Newton-Cheh, also from the Massachusetts General Hospital, added that therapies were currently being developed to modify the pathways that the gene variants influence.
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