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

Genetics Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00340509
• Other study ID #: 999902016
• Secondary ID: 02-H-N016
• Status: Completed
• Start date: October 26, 2001
• Est. completion date: July 23, 2013

Study information

• Verified date: July 23, 2013
• Source: National Institutes of Health Clinical Center (CC)
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 1888
• Est. completion date: July 23, 2013
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

• 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.

Related Conditions & MeSH terms

• Genetics

Locations

Country	Name	City	State
United States	National Heart, Lung and Blood Institute (NHLBI), 9000 Rockville Pike	Bethesda	Maryland

Sponsors (1)

Lead Sponsor	Collaborator
National Heart, Lung, and Blood Institute (NHLBI)

Country where clinical trial is conducted

United States, 

References & Publications (3)

Almasy L, Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet. 1998 May;62(5):1198-211. — View Citation

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. — View Citation

Djoussé 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. — View Citation