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Gene-Environment Interactions in Complex Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00064506
Recruitment Status : Completed
First Posted : July 10, 2003
Last Update Posted : January 15, 2015
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Eric Boerwinkle, The University of Texas Health Science Center, Houston

Brief Summary:
To assess genetic variation in 87 different cardiovascular disease candidate genes and to measure the associations of these variants with cardiovascular disease and its risk factors.

Condition or disease
Cardiovascular Diseases Heart Diseases Atherosclerosis Coronary Disease

Detailed Description:


Cardiovascular disease (CVD), the number one cause of death in industrialized countries today is a complex disease with a multifactorial etiology involving many genetic and environmental factors. Public health prevention programs designed to reduce the risk and occurrence of CVD commonly focus on modifiable environments and behaviors such as diet and physical activity, with varied results among individuals. This heterogeneity in response to CVD interventions is at least in part of genetic origin. Although a number of candidate genes have been identified which appear to influence the development of CVD, little is known about how these genetic effects may vary within demographic (e.g., race and gender) and environmental (e.g., diet and exercise) contexts; thus, it is of utmost importance to determine how genes and environments interact to produce CVD.


The purpose of this study is to characterize the environment-dependent effects of 87 biologic and positional candidate genes in a population-based sample of 11,625 African-American and Caucasian men and women from the Atherosclerosis Risk in Communities (ARIC) study. Candidate loci were selected based on confirmed functional significance, consistent association with CVD or its risk factors, and or identified as positional candidates in genome-wide linkage scans. Environmental contexts will focus on dietary measures (e.g., total kcals, Keys score, alcohol intake), obesity, measures of physical activity (sport, leisure, and work indices), smoking, and menopause status/hormone use (women only). Outcome variables will include measures of quantitative risk factors (e.g., total cholesterol, BMI, blood pressure), subclinical disease (carotid wall thickness), and clinical disease (incident coronary heart disease (CHD) and stroke). Existing DNA samples will be used for genotyping of candidate loci, and no further contact with study participants will be necessary. The ARIC cohort, because of its large size and wealth of environmental and physiological measures, provides an ideal, timely, and efficient opportunity to evaluate the effects of modifiable environments on genetic variation which may influence CVD risk and disease outcomes with the ultimate goal of establishing more efficacious programs for the treatment and prevention of CVD.

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Study Type : Observational
Actual Enrollment : 15792 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Gene-Environment Interactions in Complex Disease
Study Start Date : July 2003
Actual Primary Completion Date : May 2007
Actual Study Completion Date : May 2007

Resource links provided by the National Library of Medicine

Information from the National Library of Medicine

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Ages Eligible for Study:   45 Years to 65 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Study Population
Subjects aged 14-65 from four communities.
No eligibility criteria

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00064506

Sponsors and Collaborators
The University of Texas Health Science Center, Houston
National Heart, Lung, and Blood Institute (NHLBI)
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Principal Investigator: Eric Boerwinkle University of Texas
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Responsible Party: Eric Boerwinkle, ◦Professor & Director, Division of Epidemiology & Kozmetsky Family Chair In Human Genetics, The University of Texas Health Science Center, Houston Identifier: NCT00064506    
Other Study ID Numbers: 1224
R01HL073366 ( U.S. NIH Grant/Contract )
First Posted: July 10, 2003    Key Record Dates
Last Update Posted: January 15, 2015
Last Verified: January 2015
Additional relevant MeSH terms:
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Heart Diseases
Coronary Disease
Cardiovascular Diseases
Arterial Occlusive Diseases
Vascular Diseases
Myocardial Ischemia