Genomic Dissection of a QTL Affecting the Lipid Profile

This study has been withdrawn prior to enrollment.
(This protocol was created to support work as part of an NIH-funded study.)
Sponsor:
Collaborator:
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Medical College of Wisconsin
ClinicalTrials.gov Identifier:
NCT00064688
First received: July 10, 2003
Last updated: September 8, 2015
Last verified: September 2015
  Purpose
To search for the genetic cause of the metabolic syndrome, a lipid disorder that poses a major risk for coronary heart disease.

Condition
Cardiovascular Diseases
Heart Diseases
Obesity
Hyperlipidemia, Familial Combined

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Genomic Dissection of a QTL Affecting the Lipid Profile

Resource links provided by NLM:


Further study details as provided by Medical College of Wisconsin:

Biospecimen Retention:   Samples With DNA
DNA

Enrollment: 0
Study Start Date: July 2003
Study Completion Date: June 2008
Primary Completion Date: June 2008 (Final data collection date for primary outcome measure)
Detailed Description:

BACKGROUND:

The metabolic syndrome is a common disorder posing a significant major risk for coronary heart disease and early mortality in the Western hemisphere. Central to its cardiovascular complications is the association of the syndrome with the specific abnormalities in plasma lipid and lipoprotein profiles including increased plasma triglycerides, decreased HDL cholesterol, and predominance of dense lipoprotein particles. In search for the genetic etiology of this lipid disorder, the investigators identified a quantitative trait locus (QTL) on human chromosome 7q36 strongly linked to variation in plasma lipid levels. They hypothesize that this QTL contains genetic variants that contribute to alterations in biologic pathways underlying the genesis of the lipid disorder.

DESIGN NARRATIVE:

The study will search for the genetic cause of the metabolic syndrome, a lipid disorder that poses a major risk for coronary heart disease. The investigators have identified a quantitative trait locus (QTL) on human chromosome 7q36 strongly linked to variation in plasma lipid levels. The investigators hypothesize that this QTL contains genetic variants that contribute to alterations in biologic pathways underlying the genesis of the lipid disorder. To test for this hypothesis, they propose a comprehensive approach utilizing established resources and expertise to identify the functional sequence variants within this QTL. Specifically, they will 1.) identify single nucleotide polymorphisms (SNPs) and their haplotype and linkage disequilibrium structure across the entire QTL region; 2.) Analyze association of informative SNPs with plasma triglyceride levels, LDL levels, and lipoprotein density fractions using variance component linkage/disequilibrium analyses; and 3.) Identify potentially functional sequence variants in associated genes or genomic regions using Bayesian quantitative trait nucleotide analysis. This comprehensive application of newly available genomic technologies, novel statistical approaches, the DNA and phenotypic information available, and the consortium of expertise assembled behind this project will ensure the successful elucidation of the genetic etiology of this lipid disorder and consequently the development of effective means for prevention and/or treatment of cardiovascular complications of the metabolic syndrome.

  Eligibility

Ages Eligible for Study:   Child, Adult, Senior
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
No eligibility criteria
  Contacts and Locations
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No Contacts or Locations Provided
  More Information

Responsible Party: Medical College of Wisconsin
ClinicalTrials.gov Identifier: NCT00064688     History of Changes
Other Study ID Numbers: 1230  R01HL074168 
Study First Received: July 10, 2003
Last Updated: September 8, 2015
Health Authority: United States: Federal Government

Additional relevant MeSH terms:
Cardiovascular Diseases
Heart Diseases
Hyperlipidemias
Hyperlipidemia, Familial Combined
Dyslipidemias
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on August 28, 2016