Epidemiological and Genetic Studies of Body Mass Index

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: NCT00035698
Recruitment Status : Completed
First Posted : May 6, 2002
Last Update Posted : March 17, 2017
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Boston University

Brief Summary:
To identify genes involved in obesity.

Condition or disease
Cardiovascular Diseases Obesity Heart Diseases

Detailed Description:


Increased levels of body mass index (BMI) are associated with increased mortality and morbidity from cardiovascular disease, hypertension, diabetes and other disorders. The frequency of obesity and its associated health-related problems is increasing in the American population.


The study builds upon a two-stage genome scan for BMI performed in the NHLBI Family Heart Study (FHS). In the first, 101 pedigrees were examined with 1027 persons genotyped and a LOD of 2.2 was found on chromosome 7. In stage 2, 135 sibships of 380 persons were examined , and a LOD of 3.2 was found for the same locus. Compelling linkage was found in the combined study (LOD = 4.9, chr 7q31.3, 137cM). The LOD or logarithm of odds is a statistical estimate of whether two loci (the sites of genes) are likely to lie near each other on a chromosome and are therefore likely to be inherited together as a package.

A novel strategy will be used which combines three cutting edge methods: (1) Regression Tree analyses to identify a homogenous subset of families with evidence for BMI linkage to 7q31.3; (2) DNA pooling of samples from linked versus unlinked families; and (3) quantitative PCR of DNA pools for very high-density single nucleotide polymorphism (SNP) mapping. The combination of these methods will permit a cost effective approach for the identification of genetic polymorphisms in linkage disequilibrium with BMI, and has the potential to become a widely adopted method for gene localization of complex traits.

The study was extended through January, 2008 to show compelling evidence for a haplotype in the 5' region of the Leptin gene (p<0.00005) influencing BMI among men in the sample. The study will further demonstrate that the responsible gene in this region is not Leptin. SNP and haplotype association studies implicate three strong candidate loci and other loci also warrant additional study. The study will confirm SNP association in an independent study of 200 families showing linkage to the same position (from Dr. R. Arlen Price's group). Those loci with confirmed association will be further characterized by sequencing, genotyping new polymorphisms, and gene expression studies to identify the responsible genes.

Study Type : Observational
Actual Enrollment : 1027 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Epidemiological and Genetic Studies of Body Mass Index
Study Start Date : December 2001
Actual Primary Completion Date : January 2009
Actual Study Completion Date : January 2009

Primary Outcome Measures :
  1. This was an observational study, consequently there were no outcomes. [ Time Frame: 1997-2009 ]
    This was an observational study, consequently there were no outcomes.

Biospecimen Retention:   None Retained
This study ended years ago, I do not know why I am being asked to update it as a clinical trial. It was never a clinical trial.

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 64 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
In this study the amount of the gene product in the different tissue samples for the candidate genes will be analyzed. The study design is to compare the expression of genes in cell lines with different genetic variants for genes hypothesized to influence obesity or body mass index and located on chromosome 7. Genetic variants which distinguish the expression of genes will be investigated in other samples derived from this or similar studies. No drug intervention. No patient contacts for this research. No subject participation for this research, which is carried out on existing cell lines, data and DNA. The study will continue until the gene is found or we fail to obtain funding renewal. The expected duration of this component of our study is approximately 4 years.
The PI was not involved in the study recruitment or examination of the subjects form which the adipose samples were obtained and all data were de-identified.

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): NCT00035698

Sponsors and Collaborators
Boston University
National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator: Richard Myers, PhD Boston University

Responsible Party: Boston University Identifier: NCT00035698     History of Changes
Other Study ID Numbers: H-24244
R01HL068891 ( U.S. NIH Grant/Contract )
First Posted: May 6, 2002    Key Record Dates
Last Update Posted: March 17, 2017
Last Verified: March 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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

Additional relevant MeSH terms:
Cardiovascular Diseases
Heart Diseases