A Genome-Wide Scan For Quantitative Trait Loci of Serum Bilirubin - A Framingham Study
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ClinicalTrials.gov Identifier: NCT00340509
Recruitment Status :
First Posted : June 21, 2006
Last Update Posted : May 16, 2019
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by:
National Institutes of Health Clinical Center (CC)
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.
Condition or disease
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.
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Layout table for eligibility information
Ages Eligible for Study:
Child, Adult, Older Adult
Sexes Eligible for Study:
Accepts Healthy Volunteers:
The study population will include the members of the 330 Framingham Study families and 1888 random individuals.