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Data from Framingham Research Volunteers Going to
Genetic Study
Almost 60 years of valuable research data from
Framingham Heart Study
 Feb. 7, 2006 – Once again the volunteers in the
Framingham Heart Study – citizens of Framingham, Mass., who have been
making monumental contributions to health research since 1948 – will
step under the microscope where scientist can learn new secrets. This
time it is for a comprehensive genetic research study to identify genes
underlying cardiovascular and other chronic diseases.
The new study will be launched by the National
Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of
Health (NIH) in collaboration with the Boston University (BU) School of
Medicine.
The new research effort, the Framingham Genetic
Research Study, will be part of the NHLBI’s long-running Framingham
Heart Study (FHS) and will involve up to 500,000 genetic analyses of the
DNA of 9,000 study participants across three generations. (Read more
about the history below this news report.)
The NIH National Center for Biotechnology
Information, part of the National Library of Medicine, will help develop
a study database that will be made available at no cost to investigators
throughout the world. The database will provide opportunities for other
experts to search for associations between genes and diseases.
“This important study will take genetic research in
the Framingham study to the next level - accelerating discoveries on the
causes, prevention, and treatment of major chronic diseases,” said NHLBI
Director Elizabeth G. Nabel, M.D. “Using the latest technology,
researchers will be able to obtain more information about the connection
between unique genetic variations in DNA and cardiovascular disease risk
factors as well as the genetic basis for heart attack, stroke, and other
chronic diseases.”
Since 1948, the Framingham Heart Study has studied
the health of many of the Massachusetts town’s residents. The study has
been the source of key research findings regarding the contributions of
hypertension, high cholesterol, cigarette smoking and other risk factors
to the development of cardiovascular disease.
Researchers at the NHLBI and BU, including
physicians, geneticists, statisticians and epidemiologists, have
conducted this important research in partnership with the Framingham
Heart Study for decades.
“This unique opportunity to increase our knowledge
about health and disease is made possible by three generations of
Framingham study participants who have donated their time to advance
medical research,” said Karen Antman, M.D. Dean of Boston University
School of Medicine and Provost of Boston University Medical Campus.
The new study will take advantage of knowledge
gained from the Human Genome Project’s sequencing and mapping of all
human genes – together known as the genome – and from the recently
completed HapMap Project, which charted the pattern of genetic variation
in the human genome.
The HapMap Project showed that common but minute
variations in human DNA occur about once in very 1,000 base pairs of DNA
across the human genome, which contains about three billion base pairs.
These variations, called single nucleotide polymorphisms (SNPs), can be
used to identify genetic contributions to common diseases. The
Framingham Genetic Research Study will use recently developed technology
that now allows rapid genotyping of about 500,000 of these SNPS in each
individual.
Computer programs will then help scientists relate
these alterations to many of the clinical and laboratory measurements
made of study participants during their examinations, according to
Christopher O’Donnell, M.D., associate director of the FHS and
scientific director of the new project. “Then we hope to identify the
genetic variations that are most strongly related to participant
characteristics such as levels of cholesterol and systolic blood
pressure,” O’Donnell said.
“In support of this project, BU and the NHLBI will
apply teams of data managers, data base administrators and its extensive
computing resources. The partnership between the Framingham
investigators and study participants is an important one and they have
made major contributions to the FHS. This new project will expand the
research possibilities, said Philip Wolf, M.D. Principal Investigator of
BU’s contract to administer the Framingham Heart Study.
“Ultimately we hope this research will lead to new
treatments and better strategies to prevent cardiovascular and other
diseases,” said Daniel Levy, M.D., director of the Framingham Heart
Study.
BU and the NHLBI have a longstanding commitment to
protecting the confidentiality of Framingham Heart Study data and the
privacy of the participants and their families.
The Framingham Heart Study has obtained detailed
informed consent from study participants for genetic research. An
important priority of the new study is to ensure the privacy and
confidentiality of the medical information obtained.
NHLBI and BU have reviewed the project along with
several Framingham Heart Study oversight boards, including an ethics
advisory board. Additional oversight will be provided by an executive
committee, which will monitor the conduct of the study. This committee
will include a participant from the Framingham Heart Study and the Chair
of the Framingham Ethics Advisory Board.
NHLBI is part of the National Institutes of Health
(NIH), the Federal Government’s primary agency for biomedical and
behavioral research. NIH is a component of the U.S. Department of Health
and Human Services.
For more information on the Framingham Heart Study:
Visit the Framingham Heart Study home page at NHLBI
-
click
Read a publication issued by NHLBI on the 50th
Anniversary of the Framingham Heart Study (pdf) –
click here
More About the Framingham Heart Study
During the past 50 years, the Framingham Heart
Study has produced many major discoveries that have helped scientists
understand the development and progression of heart disease and its risk
factors--and helped Americans protect the health of their hearts.
|
Framingham Heart Study Highlights: Some of
the Most Significant Milestones Include: |
|
1960 |
Cigarette smoking found
to increase the risk of heart disease |
|
1961 |
Cholesterol level, blood
pressure, and electrocardiogram abnormalities found to
increase the risk of heart disease |
|
1967 |
Physical activity found
to reduce the risk of heart disease and obesity to increase
the risk of heart disease |
|
1970 |
High blood pressure
found to increase the risk of stroke |
|
1976 |
Menopause found to
increase the risk of heart disease |
|
1978 |
Psychosocial factors
found to affect heart disease |
|
1988 |
High levels of HDL
cholesterol found to reduce risk of death |
|
1994 |
Enlarged left ventricle
(one of two lower chambers of the heart) shown to increase
the risk of stroke |
|
1996 |
Progression from
hypertension to heart failure described |
| |
Milestones |
|
1948 |
Start of the Framingham
Heart Study |
|
1956 |
Findings on progression
of rheumatic heart disease |
|
1959 |
Factors found that
increase the likelihood of heart disease |
|
|
Some heart attacks
discovered to be "silent" (causing no pain) |
|
1960 |
Cigarette smoking found
to increase the risk of heart disease |
|
1961 |
Cholesterol level, blood
pressure, and electrocardiogram abnormalities found to
increase the risk of heart disease |
|
1965 |
First Framingham Heart
Study report on stroke |
|
1967 |
Physical activity found
to reduce the risk of heart disease and obesity to increase
the risk of heart disease |
|
1970 |
High blood pressure
found to increase the risk of stroke |
|
1971 |
Framingham Offspring
Study begins |
|
|
Progression of
congestive heart failure described |
|
1974 |
Overview of diabetes and
its complications |
|
1976 |
Menopause found to
increase the risk of heart disease |
|
1977 |
Effects of triglycerides
and LDL and HDL cholesterol described |
|
1978 |
Psychosocial factors
found to affect heart disease |
|
|
Atrial fibrillation
(condition in which the heart beats irregularly) found to
increase the risk of stroke |
|
1981 |
Filter cigarettes found
to give no protection against coronary heart disease |
|
|
Major report issued on
relationship of diet and heart disease |
|
1983 |
Reports on mitral valve
prolapse (which causes a backward leak of blood between
heart chambers) |
|
1986 |
First report on dementia |
|
1987 |
High blood cholesterol
levels found to correlate directly with risk of death in
young men |
|
|
Fibrinogen (allows blood
to clot more easily) found to increase the risk of heart
disease |
|
|
Estrogen replacement
therapy found to reduce risk of hip fractures in
post-menopausal women |
|
1988 |
High levels of HDL
cholesterol found to reduce risk of death |
|
|
Type "A" behavior
associated with heart disease |
|
|
Isolated systolic
hypertension found to increase risk of heart disease |
|
|
Cigarette smoking found
to increase risk of stroke |
|
1990 |
Homocysteine (an amino
acid) found as possible risk factor for heart disease |
|
1991 |
Heart disease risk
prediction models produced |
|
1993 |
Mild isolated systolic
hypertension shown to increase risk of heart disease |
|
|
Major report predicts
survival after diagnosis of heart failure |
|
1994 |
Enlarged left ventricle
(one of two lower chambers of the heart) shown to increase
the risk of stroke |
|
|
Lipoprotein (a) found as
possible risk factor for heart disease |
|
|
Risk factors for atrial
fibrillation described |
|
|
Apolipoprotein E found
as possible risk factor for heart disease |
|
1995 |
First Framingham report
on diastolic heart failure |
|
|
Start of the OMNI Study
of Minorities |
|
1996 |
Progression from
hypertension to heart failure described |
|
1997 |
Report on the cumulative
effects of smoking and high cholesterol on the risk for
atherosclerosis |
|
|
Investigation of the
impact of an enlarged left ventricle and risk for heart
failure in asymptomatic individuals |
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