Identification of Genes Predisposing to Atherosclerosis

This study has been completed.
Sponsor:
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI)
ClinicalTrials.gov Identifier:
NCT00059098
First received: April 17, 2003
Last updated: April 22, 2008
Last verified: April 2008
  Purpose

To find genes important in the susceptibility to coronary heart disease.


Condition
Cardiovascular Diseases
Coronary Disease
Heart Diseases

Study Type: Observational

Resource links provided by NLM:


Further study details as provided by National Heart, Lung, and Blood Institute (NHLBI):

Study Start Date: March 2003
Study Completion Date: February 2008
Primary Completion Date: February 2008 (Final data collection date for primary outcome measure)
Detailed Description:

BACKGROUND:

Coronary heart disease (CHD) is a complex disorder constituting a major health problem in Western societies. The study assesses the unknown genetic background of CHD by investigating the most common familial dyslipidemia predisposing to CHD, familial combined hyperlipidemia (FCHL). The population prevalence of FCHL is estimated to be 1-2 percent and the disorder affects 10-20 percent of families with premature CHD. In FCHL, serum cholesterol, triglycerides, or both are elevated. Both environmental and genetic factors are suggested to affect the complex FCHL phenotype. Since the molecular basis of FCHL is unknown, a significant number of genetically predisposed individuals remain unidentified and exposed to premature CHD. The study uses samples from the genetically isolated population of Finland.

DESIGN NARRATIVE:

The investigators will use the unique study samples from the genetically isolated population of Finland and apply molecular genetic tools to first restrict the genetic locus they have identified and then to characterize the causative gene underlying the FCHL disorder on chromosome 1q21. Specifically, they first aim to further restrict the region by dissecting the different component traits. They will genotype an extended study sample consisting of all available family members of 61 FCHL families with dense sets of microsatellite markers and single nucleotide polymorphisms to fully utilize the refined quantitative phenotype information in fine mapping. Second, they aim to build a transcript map over the critical region on 1q21-q23 and to identify the causative FCHL gene among the regional candidate genes. This region on 1q21-q23 is orthologous to a region on mouse chromosome 3, where a locus (Hyplip 1) for combined hyperlipidemia has been identified. They have analyzed the human homolog of the Hyplip 1 gene but disappointingly, the human Hyplip 1 gene was found 10 Mb from the peak linkage markers and no evidence emerged for Hyplip 1 as a causative gene for FCHL. Their targets to identify the FCHL gene are currently the genes showing strongest association near the linkage peak. The FCHL gene will then be functionally characterized to prove the biological dysfunction. Characterizing one gene for FCHL would improve their understanding of molecular mechanisms of cardiovascular disease, and potentially lead to more accurate diagnosis, treatment and prevention.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

No eligibility criteria

  Contacts and Locations
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Please refer to this study by its ClinicalTrials.gov identifier: NCT00059098

Sponsors and Collaborators
Investigators
Investigator: Leena Peltonen University of California, Los Angeles
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT00059098     History of Changes
Other Study ID Numbers: 1211
Study First Received: April 17, 2003
Last Updated: April 22, 2008
Health Authority: United States: Federal Government

Additional relevant MeSH terms:
Cardiovascular Diseases
Coronary Disease
Coronary Artery Disease
Heart Diseases
Myocardial Ischemia
Vascular Diseases
Arteriosclerosis
Arterial Occlusive Diseases

ClinicalTrials.gov processed this record on July 23, 2014