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Gene-Environment Interactions in Complex Disease

This study has been completed.
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Eric Boerwinkle, The University of Texas Health Science Center, Houston Identifier:
First received: July 8, 2003
Last updated: January 13, 2015
Last verified: January 2015
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.

Cardiovascular Diseases
Heart Diseases
Coronary Disease

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Gene-Environment Interactions in Complex Disease

Resource links provided by NLM:

Further study details as provided by The University of Texas Health Science Center, Houston:

Enrollment: 15792
Study Start Date: July 2003
Study Completion Date: May 2007
Primary Completion Date: May 2007 (Final data collection date for primary outcome measure)
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.


Ages Eligible for Study:   45 Years to 65 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Study Population
Subjects aged 14-65 from four communities.
No eligibility criteria
  Contacts and Locations
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Please refer to this study by its identifier: NCT00064506

Sponsors and Collaborators
The University of Texas Health Science Center, Houston
National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator: Eric Boerwinkle University of Texas
  More Information

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     History of Changes
Other Study ID Numbers: 1224
R01HL073366 ( US NIH Grant/Contract Award Number )
Study First Received: July 8, 2003
Last Updated: January 13, 2015

Additional relevant MeSH terms:
Cardiovascular Diseases
Heart Diseases
Coronary Disease
Coronary Artery Disease
Arterial Occlusive Diseases
Vascular Diseases
Myocardial Ischemia processed this record on May 25, 2017