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University of Cincinnati Academic Health Center
Publish Date: 10/09/02
Media Contact: AHC Public Relations, (513) 558-4553
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Link Between Two Gene Mutations and Heart Disease Published in NEJM

Cincinnati, Ohio--The University of Cincinnati (UC) and The University Hospital in Cincinnati announced a landmark paper published in today's New England Journal of Medicine (NEJM). UC researchers Stephen B. Liggett, MD, professor of medicine and molecular genetics and Lynne Wagoner, MD, associate professor of medicine, are the principal investigators of the paper entitled "Synergistic Polymorphisms of beta-1 and alpha 2-C Adrenergic Receptors and the Risk of Congestive Heart Failure," which demonstrates for the first time that a predisposition to heart failure in African-Americans can be predicted by the identification of two mutated genes found in an individual's own DNA. The NEJM paper details the findings of a collaborative research project between the UC Divisions of Pulmonary and Critical Care Medicine and Cardiovascular Disease in the Department of Internal Medicine, and the University of Michigan Department of Epidemiology, in Ann Arbor. The human research was conducted within the Heart Failure and Transplantation Program at The University Hospital in Cincinnati, which is directed by Wagoner, who is also the director of Cardiac Services at The University Hospital. UC's Heart Failure and Transplantation Program is nationally renowned and is the only one in the Tri-state area specializing in heart failure and cardiac transplantation.

The study assessed the risk for developing congestive heart failure in 348 individuals. The researchers found that people with variations in two receptor genes, that control heart contractility, are 10 times more likely to develop heart failure. The finding was most apparent in African-Americans, who have a relatively high incidence of these variants.

Dr. Liggett notes, "Aside from the rare hereditary cardiomyopathies, no genetic tests have shown predictive value for the common forms of heart failure, which afflict five million people in the U.S. For the first time we have some markers that indicate who may be at risk. For these people who have this genetic predisposition, it seems reasonable that they should absolutely eliminate all other risk factors, such as high blood pressure, diabetes, high cholesterol, obesity and smoking, so as to minimize their chances of developing this syndrome. A positive genetic test may also indicate the need for more careful monitoring of individuals, even if they are without symptoms." The results of the study also suggest that these markers can be used to tailor drug therapy.

"Heart disease is still the number one cause of death in the U.S.," Dr. Wagoner said. "Anything that helps identify people at high risk for heart failure may help prevent the disease or lead to more effective treatments." About 50 percent of patients with heart failure die within five years. Over the next year, 400,000 new cases will be diagnosed. "Heart failure is responsible for more hospitalizations than all forms of cancer combined," Dr. Wagoner said. "The incidence of heart failure, and its mortality, is greatest in African-Americans. This finding is just the tip of the iceberg to what may occur from such research; using genetics to map out treatment strategies for various subgroups of patients with heart failure based simply on a blood test. It is the future of heart failure management."

The University Hospital is part of the Health Alliance of Greater Cincinnati. The Health Alliance is an integrated health care delivery system that also includes The Christ Hospital, The St. Luke Hospitals, The Jewish Hospital, The Fort Hamilton Hospital and the physicians of Alliance Primary Care.

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