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Identification of Genes Predisposing to Atherosclerosis

This study has been completed.
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI) Identifier:
First received: April 17, 2003
Last updated: July 11, 2016
Last verified: April 2008
To find genes important in the susceptibility to coronary heart disease.

Cardiovascular Diseases Coronary Disease Heart Diseases

Study Type: Observational

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:


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.


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.


Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
No eligibility criteria
  Contacts and Locations
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Please refer to this study by its identifier: NCT00059098

Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
OverallOfficial: Leena Peltonen University of California, Los Angeles
  More Information

Publications: Identifier: NCT00059098     History of Changes
Other Study ID Numbers: 1211
R01HL070150 ( U.S. NIH Grant/Contract )
Study First Received: April 17, 2003
Last Updated: July 11, 2016

Additional relevant MeSH terms:
Cardiovascular Diseases
Heart Diseases
Coronary Disease
Coronary Artery Disease
Myocardial Ischemia
Vascular Diseases
Arterial Occlusive Diseases processed this record on September 21, 2017