Defining an Obesity QTL on Chromosome 3q

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: NCT00087919
Recruitment Status : Completed
First Posted : July 19, 2004
Last Update Posted : July 2, 2008
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI)

Brief Summary:
To investigate the genetic basis of obesity by fine mapping an obesity quantitative trail linkage (QTL) linked to chromosome 3q.

Condition or disease
Cardiovascular Diseases Heart Diseases Obesity

Detailed Description:


In the last several decades obesity has emerged as a major public health threat. While prevention through lifestyle change is the only long-term solution, better understanding of the physiologic mechanisms would greatly assist development of drugs and targeted prevention. Obesity is a highly heritable condition and while genes must account for a substantial proportion of individual susceptibility they have eluded detection. Powerful new genetic and genomic tools now permit comprehensive evaluation of candidate genes, including all genes under linkage peaks. These tools include new genomic resources (the human genome sequence, databases of common SNPs, and the haplotype map), rapid and inexpensive discovery and genotyping and new analytic methods (haplotype-based association and admixture mapping).


In a large African American family set Dr. Zhu and colleagues have obtained strong linkage evidence for obesity on chromosome 3q (combined LOD score = 3.7). A prime candidate (adiponectin) lies near this peak. They propose to follow up that finding by combining the epidemiologic data with high-throughput genotyping and move from linkage to association analysis. The results for this QTL will be evaluated within the available environmental factors to assess potential gene-environment and gene-gene interactions. The available phenotypes include body composition, resting metabolic rate, physical activity, plasma insulin, glucose, and leptin. In a family-based design they will examine the linkage peak centered on position 188 cM on chromosome 3q (20 Cm 1-LOD support interval), with the following step-wise strategy: (a) Genotype 200 single nucleotide polymorphisms (SNPs) in this region on 300 families (1,000 individuals); (b) Conduct linkage, linkage disequilibrium and admixture mapping to potentially further narrow the region; and (c) Conduct resequencing and haplotype-based association studies for all candidate genes under the peak. Statistical analysis incorporating intermediate phenotypes and environmental covariates will be used to characterize potential gene x gene or gene x environment interactions. Replication will be tested in additional populations of African and European origin.

Study Type : Observational
Study Start Date : July 2004
Actual Primary Completion Date : May 2008
Actual Study Completion Date : May 2008

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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): NCT00087919

Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
OverallOfficial: Xiaofeng Zhu Loyola University of Chicago Identifier: NCT00087919     History of Changes
Other Study ID Numbers: 1263
First Posted: July 19, 2004    Key Record Dates
Last Update Posted: July 2, 2008
Last Verified: July 2008

Additional relevant MeSH terms:
Cardiovascular Diseases
Heart Diseases
Nutrition Disorders
Body Weight
Signs and Symptoms