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A Genome-Wide Scan For Quantitative Trait Loci of Serum Bilirubin - A Framingham Study

This study has been completed.
Study NCT00340509.   Last updated on September 19, 2008.   Information provided by National Institutes of Health Clinical Center (CC)

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Descriptive Information Fields
Brief Title  A Genome-Wide Scan For Quantitative Trait Loci of Serum Bilirubin - A Framingham Study
Official Title  A Genome-Wide Scan For Quantitative Trait Loci of Serum Bilirubin - A Framingham Study
Brief Summary

Studies have shown that there is a significant association between serum bilirubin concentrations and risk of coronary artery disease (CAD). So far, no linkage analysis in humans between serum bilirubin and DNA markers has been reported. The purpose of this protocol is to identify chromosome regions that contain quantitative trait loci (QTL) involved in serum bilirubin metabolism and bilirubin concentration. In the Framingham Study, a 10cM genome scan (about 400 markers) has been conducted in more than three hundred families. Serum bilirubin was measured in the first and second exams of the Framingham Offspring. These data provide us the opportunity to undertake linkage analyses to map QTL of serum bilirubin.

Detailed Description

Many studies showed that there is a significant relationship between serum bilirubin levels and risk of coronary artery disease (CAD). We carried out a genome-wide scan for quantitative trait loci of serum bilirubin through the 330 extended Framingham families and found significant evidence of linkage of serum bilirubin to chromosome 2q telomere where an important candidate gene, Uridine diphosphate glycosyltransferase 1 gene (UGT1A1), resides. The purposes of this protocol are to confirm linkage between serum bilirubin and UGT1A1, mathematical modeling and association studies between the genotypes of UGT1A1 and CAD.

Study Phase
Study Type  Observational
Study Design 
Primary Outcome Measure 
Secondary Outcome Measure 
Condition  Genetics
Intervention 
MEDLINE PMIDs
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Recruitment Information Fields
Recruitment Status  Completed
Enrollment  330
Start Date  October 2001
Completion Date
Eligibility Criteria 
  • INCLUSION CRITERIA:

The study population will include the members of the 330 Framingham Study families with genome scan.

The Original Cohort will also be included.

Gender Both
Ages
Accepts Healthy Volunteers No
Contacts ††
Location Countries  United States,   Austria
Administrative Information Fields
NCT ID  NCT00340509
Organization ID 999902016
Secondary IDs †† 02-H-N016
Study Sponsor  National Heart, Lung, and Blood Institute (NHLBI)
Collaborators ††
Investigators 
Information Provided By National Institutes of Health Clinical Center (CC)
Verification Date September 2008
First Received Date  June 19, 2006
Last Updated Date September 19, 2008

 †    Required WHO trial registration data element.
††   WHO trial registration data element that is required only if it exists.




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