SCIENCE / GENETICS : Gene Linked to One Form of High Blood Pressure
Scientists for the first time have linked a human gene to the most common form of high blood pressure, a finding that may help treat and prevent a disease afflicting more than 50 million Americans.
“This is a major advance that will help us understand one of the most common chronic conditions in the United States,” said Dr. Claude Lenfant, director of the National Heart, Lung and Blood Institute.
The institute helped fund the study, which dealt with “essential” hypertension. The condition accounts for about 95% of high blood pressure. Scientists believe that multiple genes and environmental factors play a role in the disease, which can lead to heart attacks and strokes.
Dr. Victor Dzau, director of the Cardiovascular Research Center at Stanford University, said he found the evidence for the gene’s role “compelling, but not proven.”
Even if the gene does not raise hypertension risk, the finding gives scientists “very specific directions” on where to seek such a gene, said Dr. Theodore Kurtz, a cardiovascular geneticist at UC San Francisco.
“It’s a very exciting result and it has major implications for our understanding of the genetics of high blood pressure and cardiovascular disease,” Kurtz said.
“People were skeptical for years that we’d even be able to begin to isolate a single gene that might be related.”
Scientists said the study is the first in humans to directly link essential hypertension to a gene, rather than through some proxy such as proteins in the blood.
The work is reported in Friday’s issue of the journal Cell by Dr. Jean-Marc Lalouel of the Howard Hughes Medical Institute and the University of Utah and others.
Lalouel said he suspects that the gene may predispose people to hypertension related to eating salt. If so, tests for the version of the gene that promotes hypertension may one day let doctors identify susceptible people early so they could cut back on salt and avoid the disease, he said.
The gene would be neither necessary nor sufficient to produce hypertension, he said.
The gene tells the body how to make a substance called angiotensinogen. The substance is known to be involved in the body’s mechanisms for controlling blood volume, which affects blood pressure.
The gene was associated with hypertension by statistical evidence, which scientists said cannot prove that it produces a risk for high blood pressure.
Researchers studied 379 pairs of hypertensive siblings from 215 families in Paris and Salt Lake City, plus 237 unrelated people without hypertension. In each geographic group, they found evidence that the gene promotes a risk of high blood pressure.
