Genetic Factors in Atherosclerosis

The purpose of this study is to identify genes associated with certain risk factors for atherosclerosis (hardening of the arteries) and its consequences, such as development of coronary artery disease, heart attack, other blood vessel disease and stroke.

People enrolled in the Framingham Heart Study in Framingham, Massachusetts, are eligible to participate in this study. They will undergo a medical history, including review of their medical records and a family history; evaluation of memory and mood; breathing test and electrocardiogram (EKG); blood and urine tests, including blood sample collection for DNA (genetic) testing; evaluation of gait (walking), balance and hand grip strength; and hearing test. They will also fill out questionnaires on their eating habits and general health.

Any patients who may suffer a stroke during the study will be examined during their hospitalization and at 3, 6, 12, and 24 months after the stroke. This examination includes a neurological evaluation, assessment of ability to perform daily living tasks and, possibly, magnetic resonance imaging (MRI) of the brain, a test that uses a strong magnetic field and radio waves to produce pictures of the brain.

We are studying the relationship between genetic variants of the human immune system and atherosclerosis through a collaboration with the Framingham Heart Study. Since atherosclerosis is a disease of chronic inflammation of the arterial vessel wall, genetic variants in molecules that are responsible for the migration of leukocytes are likely to explain some of the genetic diversity in the rate of heart disease and strokes. Therefore we are conducting a molecular epidemiology study of the genetics of atherosclerosis using materials and clinical data already collected by the Framingham Heart Study. The Heart Study is a prospective epidemiological study of the natural history of heart disease and stroke that has involved individuals residing in Framingham, Massachusetts since the 1950s. We will compare risks of individuals with particular genotypes for developing atherosclerosis and its sequelae, coronary artery disease, heart attack, peripheral vascular disease, and stroke. If correlations of genotype with risk of atherosclerosis can be found, then this will facilitate new treatments of this disease based on interference with particular components of the human immune system.

• INCLUSION CRITERIA:

  1. Between the ages of 18 and 65 years inclusive
  2. Access to a primary medical care provider outside of the NIH
  3. Able to give informed consent
  4. Willingness to have history and physical examination annually

EXCLUSION CRITERIA:

1. History of malignancy or autoimmune disease such as rheumatoid arthritis, vasculitis, pyoderma gangrenosum
2. Use of systemic corticosteroids within the past month
3. Use of local corticosteroids at the proposed blistering site within the past month
4. Evidence of current acute infection
5. Personal or family history of keloid formation
6. Use of any investigative drugs within the past month
7. History of skin disease within the past one year (e.g. psoriasis, atopic dermatitis)
8. History of diabetes