Genomics, Environmental Factors and Social Determinants of Cardiovascular Disease in African-Americans Study (GENE-FORECAST)

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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02055209
Recruitment Status : Recruiting
First Posted : February 5, 2014
Last Update Posted : June 19, 2018
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Brief Summary:

Our objective is to develop a community-based cohort and novel genomic science resource for defining the biological significance of ancestry-related genomic variation in African-Americans within the GENE-FORECAST :GENomics, Environmental FactORs and the Social DEterminants of Cardiovascular Disease in African Americans STudy. This resource will enable our team to test the working hypothesis that race-ancestry differences in the burden of cardiovascular disease (CVD) reflects the influence of a unique interplay between the distinct genomic variation characteristic of African-Americans (AA) and the exposome of social determinants and environmental factors that influence the pathogenesis of CVD in AA. The specific aims are:

AIM I. To examine the associations between common or ancestry-related DNA variants and CVD risk factors (e.g. hypertension) and phenotypes (e.g. coronary artery calcification) in African-Americans (AA).

AIM II. To examine the associations between health behaviors or social-environmental factors and CVD risk factors and phenotypes in AA.

The study is designed to create a cohort amenable to nested case-control analyses based on a community-based sampling frame with a target size of approximately 1800 self-identified, US -born, African-American (AA) men and women (ages 21-65) to be recruited over the next 5-6 years from the metropolitan Washington DC, Montgomery County (MC) and Prince George s County (PG) areas to be recruited to the NIH Clinical Center. The initial participant recruitment strategy involved two approaches: 1) a random-digit telephone screening survey targeting study-eligible AA that will be consented and invited to an evaluation visit in the NIH Clinical Center which we contracted with a well-established survey group (Southern Research Group [SRG]); and 2) a community outreach effort to recruit participants into the Clinical Center by leveraging marketing and the engagement of community-based leaders, organizations and faith-based institutions in the area. We are no longer contracting with SRG but rather focusing on community outreach and marketing for recruitment to the Clinical Center. The contract with SRG was terminated after the first two years of the protocol due to low yield of recruitment to the Clinical Center compared to community outreach.

Given the high burden of CVD among AA, this approach will yield a sample with normal individuals as well as a high proportion of AA with CVD risk factors such as obesity and hypertension that predispose to the eventual clinical signs and symptoms of CVD (e.g. heart attack and stroke). Based on previous epidemiology studies, this protocol s participant ascertainment approach and the target demographic profile; it is anticipated that the prevalence of clinically manifest CVD (history of angina, heart attack or stroke) will be less than 10-15% of the sample. All participants will undergo extensive evaluation in the Clinical Center that includes: medical evaluation (e.g. anthropometrics, blood pressure), laboratory tests (e.g. lipid levels, kidney function), social determinants profiles (e.g. socioeconomic status (SES), perceived stress, discrimination, depression, perceived neighborhood characteristics), blood/urine collection for deep-sequencing based omic analyses (e.g. whole exome sequencing, and RNA-Seq), as well as testing for pre-clinical , biomarkers of the pathobiological processes of CVD or CVD phenotypes (e.g. coronary artery calcification, microalbuminuria, leukocyte telomeres, or vascular dysfunction). It is anticipated that these deep sequencing efforts will yield novel ancestry-related DNA variants associated with the CVD phenotypes; yet with unclear biological significance in elucidating racial disparities in CVD. Accordingly, our protocol also includes a Genotype-to-Phenotype (G2P) component that re- contacts subsets of the cohort based on their genotype (e.g. APOL1 chronic kidney disease risk alleles) for a call-back visit for more in-depth phenotyping and characterization of the potential effect of the DNA variant of interest on human systems biology. In some cases family members of the proband may also be invited to participate in these G2P studies to further characterize the biological significance of these putative functional DNA variants of interest.

The primary outcome variables involve well established CVD phenotypes: 1) CVD risk factors (e.g. hypertension, dyslipidemia), 2) markers of pre-clinical CVD (i.e. coronary artery calcification, coronary plaque burden by cardiac CT angiography (CTA), carotid plaque burden by 3D ultrasound, vascular dysfunction, microalbuminuria, C-reactive protein, Vitamin D levels). The protocol will assess exposures associated with CVD and relevant covariates including: 1) social determinants (e.g. socioeconomic status (SES), perceived stress, discrimination, and depression); 2) environmental factors s...

Condition or disease
Hypertension Cardiovascular Disease

  Show Detailed Description

Study Type : Observational
Estimated Enrollment : 2019 participants
Time Perspective: Other
Official Title: GENE-FORECASTSM: Genomics, Environmental Factors and Social Determinants of Cardiovascular Disease in African-Americans Study
Study Start Date : February 4, 2014
Estimated Primary Completion Date : June 4, 2019
Estimated Study Completion Date : June 4, 2019

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. To develop a novel genomic science resource for defining the functional significance and human biology consequences of ancestry-related genomic variation in AA. [ Time Frame: 5 years ]

Information from the National Library of Medicine

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Ages Eligible for Study:   21 Years to 65 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Community-based self-identified (non-institutionalized), US-born, African American men and women age 21-65 will be included in the study. This criterion is inclusive of self-identified AA of both Hispanic and non-Hispanic ethnicity.


Pregnant women are excluded from all aspects of the protocol. Adults who are unable to provide informed consent will be excluded. Those with severe and disabling co-morbidities associated with end-stage CVD will be excluded such as a recent history of hospitalization for manifestations of cardiovascular disease. More specifically, patients with a history of stroke, heart attack and/or heart failure in the past 12 months will be excluded. Nursing females will be excluded from FGD PET/CT and/or PET/MRI. Participants with pacemakers and/or any history of metal device implantation and/or metal in their body will be excluded from MRI according to clinical center guidelines. Participants with implanted electronic medical device will be excluded from percent body fat measurement. For CTA, patients with known allergic reaction to contrast will not be given contrast. Diabetic patients taking metformin will be excluded from receiving CTA IV contrast agents. Patients with renal failure (eGFR<60) will not be given either MRI or CTA IV contrast.

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): NCT02055209

Contact: Nicole Plass, R.N. (301) 451-3911

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Principal Investigator: Gary H Gibbons, M.D. National Heart, Lung, and Blood Institute (NHLBI)

Additional Information:
Responsible Party: National Human Genome Research Institute (NHGRI) Identifier: NCT02055209     History of Changes
Other Study ID Numbers: 140048
First Posted: February 5, 2014    Key Record Dates
Last Update Posted: June 19, 2018
Last Verified: April 2, 2018

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Coronary Artery Calcification
African American
African-American Families

Additional relevant MeSH terms:
Cardiovascular Diseases