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CompletedNCT00340509Updated Dec 16, 2019

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

An observational study in Genetics, sponsored by National Heart, Lung, and Blood Institute (NHLBI). Completed at 1 site in United States. Per ClinicalTrials.gov, last updated 2019-12-16.

Sponsored by National Heart, Lung, and Blood Institute (NHLBI) · Observational

Study type
Observational
Enrollment
1,888
Sex
All
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Study 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.

Read the 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.

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Conditions studied

  • Genetics

Keywords

  • Genetics
  • Population
  • CHD Risk
  • Epidemiology
  • Gene Mapping
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In context

Lead sponsor

National Heart, Lung, and Blood Institute (NHLBI) is the lead sponsor of 1,117 studies on the registry; 71 are open to participants now.

Of its 57 completed or terminated interventional studies of FDA-regulated products, 49 (86%) have results posted.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No

Eligibility criteria

  • INCLUSION CRITERIA:

The study population will include the members of the 330 Framingham Study families and 1888 random individuals.

The Original Cohort will also be included.

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Study design

Enrollment
1,888 participants (actual)
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Study locations

1 site
  • National Heart, Lung and Blood Institute (NHLBI), 9000 Rockville Pike
    Bethesda, Maryland 20892, United States
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References and documents

Publications

  • Djousse L, Levy D, Cupples LA, Evans JC, D'Agostino RB, Ellison RC. Total serum bilirubin and risk of cardiovascular disease in the Framingham offspring study. Am J Cardiol. 2001 May 15;87(10):1196-200; A4, 7. doi: 10.1016/s0002-9149(01)01494-1. No abstract available. PubMed 11356398 ↗
  • Breimer LH, Wannamethee G, Ebrahim S, Shaper AG. Serum bilirubin and risk of ischemic heart disease in middle-aged British men. Clin Chem. 1995 Oct;41(10):1504-8. PubMed 7586525 ↗
  • Almasy L, Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet. 1998 May;62(5):1198-211. doi: 10.1086/301844. PubMed 9545414 ↗
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Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Dec 16, 2019, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT00340509
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
First posted
Jun 21, 2006
Start date
Oct 26, 2001
Completion
Jul 23, 2013
Last update
Dec 16, 2019

Study contacts

Gang PH Zheng, Ph.D.
principal investigator · National Heart, Lung, and Blood Institute (NHLBI)
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Jul 2013. You cannot join it, but the record below documents what was studied.

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