Genetics of Obesity, Diabetes, and Heart Disease in African Diaspora Populations

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: NCT01316783
Recruitment Status : Enrolling by invitation
First Posted : March 16, 2011
Last Update Posted : December 5, 2018
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Brief Summary:


- African Americans have one of the highest rates of type 2 diabetes in the United States, and often have other medical problems related to obesity and cardiovascular disease. These conditions have various risk factors, including high blood sugar levels, high cholesterol levels, and insulin resistance. However, these risk factors have not been studied very closely in individuals with African ancestry, including Afro-Caribbean and sub-Saharan Africa migrant populations. Researchers are interested in conducting a genetic study on obesity, adult-onset diabetes, heart disease, and other common health conditions in individuals with African ancestry.


- To collect genetic and non-genetic information from individuals with African ancestry to study common health conditions related to obesity, adult-onset diabetes, and heart disease.


- Individuals at least 18 years of age who self-identify as African American, Afro-Caribbean, or migrants from sub Saharan Africa.


  • Participants will undergo a physical examination and will provide a blood sample for study.
  • Participants will also answer questions about personal and family medical history and current lifestyle behaviors.
  • No treatment will be provided as part of this protocol.

Condition or disease
Diabetes Cardiovascular Disease

Detailed Description:
This research protocol is designed to study the genetic basis of the clustering of several metabolic disorders including Type 2 diabetes (T2D), hypertension, cardiovascular diseases (CVD), obesity, and other related conditions in populations of the African Diaspora. This project takes advantage of the well-established infrastructure and success of Dr. Anne Sumner s NIDDK clinical protocols. The project will aim to enroll subjects from her cohorts which include whites, African Americans and Africans living in the United States with the goal of performing quantitative trait analysis using a candidate gene approach to understand the genetic basis of serum lipid levels, blood pressure, fasting glucose, and other metabolic parameters. For aim 2, we propose to perform whole exome sequencing in a subset of cases (n=48, 96 chromosomes) to identify both rare and common variants for multiple metabolic parameters. Variants identified by the exome sequencing effort and by a current sequencing project of six candidate lipid genes will be genotyped in the entire cohort. Overall, these studies will further efforts to understand if black-white differences as well as differences within black populations exist in the genetic basis of T2D, CVD, and obesity. Given past activities, it is also anticipated that this resource will form the basis of multiple collaborations between Dr. Rotimi s lab, several NIH intramural researchers, and non-NIH scientists.

Study Type : Observational
Actual Enrollment : 479 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Genetics of Obesity, Diabetes, and Heart Disease in African Diaspora Populations
Study Start Date : March 15, 2011

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Metabolic disorders [ Time Frame: One study visit ]
    type 2 diabetes, metabolic outcomes, dyslipidemia

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 100 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
The estimated number of participants is 1000. Based on Dr. Sumner s previous work with these cohorts, we expect 25% of the African Ancestry populations to have abnormal glucose tolerance or diabetes, 50 percent to be obese, and 20% to be hypertensive. For whites the % frequency will be lower. The power analysis is based on black populations, the focus of the study. The enrollment ceiling is 1000 and the anticipated enrollment by year is 100 individuals.@@@

Subjects will include unrelated persons who self-identify as white or African American, Afro-Caribbean or migrant from sub-Saharan Africa. Adults of African ancestry are prioritized for this study because of the paucity of genetics studies investigating the association of risk alleles contributing to the prevalence of T2D, CVD, obesity and other common conditions in this population. A small proportion of whites (less than 10%) will be included in this study, as they are in Dr. Sumner s ongoing projects; they will have the same clinical measurements obtained in the same laboratory to serve as a comparison group.


Children are excluded as these phenotypes present more commonly in adults. Attempts will be made to enroll an equal number of men and women. No prisoners, pregnant women or fetuses will be included in this study.

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): NCT01316783

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Principal Investigator: Charles N Rotimi, M.D. National Human Genome Research Institute (NHGRI)

Additional Information:
Responsible Party: National Human Genome Research Institute (NHGRI) Identifier: NCT01316783     History of Changes
Other Study ID Numbers: 110110
First Posted: March 16, 2011    Key Record Dates
Last Update Posted: December 5, 2018
Last Verified: July 10, 2018

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Cardiometabolic Diseases
African Descent
Cardiovascular Disease

Additional relevant MeSH terms:
Diabetes Mellitus
Cardiovascular Diseases
Heart Diseases
Glucose Metabolism Disorders
Metabolic Diseases
Endocrine System Diseases