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Gene Raises Young Women's Stroke Risk
September 27, 2005 08:40:12 PM PST
A key gene variant may help explain increased stroke risk in young American black and white women, researchers report.
The finding might help scientists develop specific genetic screen that could someday spot affected individuals at high stroke risk.
"The results of these tests would allow practitioners to counsel patients on stroke risk and to warn patients that specific environmental factors, such as oral contraceptive use, diet or smoking, may be particularly harmful," study author Dr. John Cole, of the University of Maryland School of Medicine, Baltimore, said in a prepared statement.
He added that the discovery might also lead to drugs that specially target the gene variants in order to reduce stroke risk.
The stroke-linked variant in question is what experts call a "structural variation," or polymorphism, lying in a gene called phosphodiesterase 4D (PDE4D).
This association is also present for small blood vessel disease and for large artery atherosclerosis, according to the study, which was presented Monday at the annual meeting of the American Neurological Association in San Diego.
Several previous studies have identified an association between PDE4D and stroke in different populations.
The next step in this line of research is to determine the specific PDE4D gene variants responsible for this association and how the variants affect proteins that are coded for by the PDE4D gene, said Cole, who is also affiliated with the Baltimore Department of Veterans Affairs Medical Center.
"For example," he said, "does the genetic variant cause one to produce a defective protein, or decrease or increase the level of a protein, thereby predisposing to stroke? Does the variant make an individual more susceptible to stroke given a specific environmental exposure?"
When these questions have been answered, it may be worthwhile to develop a genetic test for the PDE4D variants, Cole added.
