A Genome-Wide Scan For Quantitative Trait Loci of Serum B... | NCT00340509

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

NCT00340509

Sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Status

Completed

Last Update Posted

Dec 16, 2019Actual

Enrollment

1,888Actual

Phase

Not provided

Conditions

Genetics

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
02-H-N016

Status Module

Record Verification Date

Jul 23, 2013

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 26, 2001

Primary Completion Date

Not provided

Completion Date

Jul 23, 2013

First Submitted Date

Jun 19, 2006

First Submission Date that Met QC Criteria

Jun 19, 2006

First Posted Date

Jun 21, 2006Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Dec 13, 2019

Last Update Posted Date

Dec 16, 2019Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Not provided

Lead Sponsor

National Heart, Lung, and Blood Institute (NHLBI)NIH

Collaborators

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

No data available

No data is available for this block.

Biospecimen

No data available

No data is available for this block.

Enrollment

1,888Actual

Eligibility Module

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.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Gang PH Zheng, Ph.D.	National Heart, Lung, and Blood Institute (NHLBI)	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
National Heart, Lung and Blood Institute (NHLBI), 9000 Rockville Pike		Bethesda	Maryland	20892	United States

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
11356398	Background	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.
7586525	Background	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.