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Spring 2008 Table of Contents

A Town's Contribution to the Health of a Nation

Framingham Heart Study celebrates sixtieth anniversary

| From Commonwealth | By Jessica Ullian and Rebecca McNamara (CAS'08, COM'08)

A Framingham Heart Study participant weighs in. Photo from Framingham Heart Study archives

In 1948, when the Framingham Heart Study began, the term "risk factor" hadn't yet been invented, and the idea that diet, exercise, and tobacco use could affect a person's cardiovascular health seemed almost revolutionary. To recruit volunteers, the researchers went door to door throughout the town of Framingham, Massachusetts, asking people to participate by having regular physical examinations and answering questions about their lifestyles. That year, more than 5,200 residents between the ages of thirty and sixty-two signed up.

Sixty years later, the study — run by Boston University since 1971 — is working with its third generation of Framingham residents. Originally under the auspices of the Public Health Service and today sponsored by the National Heart, Lung, and Blood Institute of the National Institutes of Health, it has yielded landmark results that have changed the way doctors think about the treatment and prevention of cardiovascular disease. Now, with the release of the clinical records and genetic data of 9,000 of the study's 14,000-plus participants to the scientific community, it is poised to make even greater contributions to personalized health care.

Through a program called SHARe (SNP Health Association Resource), researchers will be able to use genetic markers, known as single nucleotide polymorphisms, or SNPs, to compare an individual's genetic data with his or her clinical history, offering new insight into the relationship between genetics and health.

Bostonia spoke with Philip A. Wolf, the study's principal investigator and a professor of neurology and medicine at BU's School of Medicine and of public health at the School of Public Health, about the study's legacy and the potential for new discoveries.

What do you see as the Framingham Heart Study's most significant accomplishment?
Framingham changed the focus of health care from treating sick people to trying to prevent healthy people from getting sick. The study identified the risk factors for diseases of the heart and blood vessels — the idea that hypertension, high cholesterol, and cigarette smoking were key risk factors for developing coronary disease. And the idea that high blood pressure, elevated blood cholesterol, obesity, and again, cigarette smoking were predisposing factors to developing a heart attack and stroke.

You're currently examining the third generation of participants. What are the benefits of the study's longevity?
One of the benefits of the third generation is that we know the condition of their parents and grandparents. In their grandparents, we know who had heart attacks and strokes and who developed Alzheimer's, and in the parents we know the same. We're able to relate their genetic information to that of their parents and grandparents and search for genetic clues and relationships between their genes and their environment.

What will the Framingham data do for the scientific community once it's distributed through the SHARe program?
Framingham has collected enormous amounts of what's called phenotypic information, or traits. We know the blood pressures of the first generation. For the second generation, we have similar information on all sorts of personal characteristics and habits — smoking, exercise, diet, as well as blood pressure and vitamin levels in the blood. This enormous amount of phenotypic information can be related to genetic information. Through SHARe, we've been able to get 550 of the SNPs analyzed on about 9,000 of the Framingham subjects and relate that to hundreds and hundreds of traits in an attempt to find genetic factors predisposing to many of the chronic diseases and conditions.

What new possibilities does SHARe open up for cardiovascular research?
It's not only for cardiovascular research, but for all kinds of conditions. It's the idea of finding what the Secretary of Health and Human Services calls personalized medicine — if you have these particular genes, you're at a much greater risk of developing heart attack, and someone in your condition would take an elevated cholesterol level much more seriously than someone who didn't have that genetic makeup. It allows you to focus on the individual, by taking into account not only their lifestyle and the risk factors in their blood, but what their predisposition is to disease, to high blood pressure, to high cholesterol, and to heart attack.

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