Scientists have identified the first common gene variants associated with an elevated risk of hypertension, a disease that affects around a billion people worldwide and can cause stroke, heart attack and kidney failure.
The variants are located on two genes called NPPA and NPPB, which control proteins that relax blood vessels and help the excretion of dietary sodium, they reported on Sunday in the journal Nature Genetics.
AdvertisementThe team sifted through the DNA of nearly 30,000 people, looking for telltale single changes in the genetic code in the NPPA and NPPB regions.
They found 13 of these so-called single-nucleotide polymorphisms (SNPs), which despite a minute presence in the genome can have major, lasting impacts on how genes work.
One SNP, found in almost 90 percent of the volunteers, was linked to a reduction of 20 percent in one of the key proteins, and to an 18 percent increased risk of hypertension.
"It's well known that hypertension can run in families, and a few rare genetic syndromes that raise blood pressure have been identified," researcher Christopher Newton-Cheh of the Massachusetts General Hospital's Center for Human Genetic Research said in a press release.
"But the common genetic basis for the type of hypertension that affects a billion individuals around the world has been very difficult to establish."
NPPA and NPPB play a role in producing so-called atrial and B-type natriuretic peptides.
These proteins are be produced by the heart when it is stressed and in fact are used as a diagnostic tool, as high levels are an indicator of heart failure.
Many more genes are likely to be found that contribute to higher blood pressure, but the new findings throw up new roads of exploration for drugs to block the action of the faulty genes, say the investigators.
"Some day it may be possible to treat natriuretic-peptide-deficient individuals with therapies that restore normal levels and reduce risk," said Thomas Wang, of the hospital's cardiology division.