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Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia

This study has been completed.
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
John Brunzell, University of Washington Identifier:
First received: May 25, 2000
Last updated: December 9, 2014
Last verified: December 2014
To conduct focused studies of lipoprotein physiology and pathophysiology in genetically characterized patients with the objectives of understanding disease mechanisms, developing better treatments, and identifying and preventing early vascular disease.

Atherosclerosis Cardiovascular Diseases Heart Diseases Hypercholesterolemia Hyperlipidemia, Familial Combined

Study Type: Observational
Study Design: Observational Model: Family-Based
Official Title: Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia

Further study details as provided by John Brunzell, University of Washington:

Primary Outcome Measures:
  • No outcome measures for this research [ Time Frame: 1980-2003 ]
    Analysis of Familial Data

Enrollment: 450
Study Start Date: April 2001
Study Completion Date: March 2003
Primary Completion Date: March 2003 (Final data collection date for primary outcome measure)
Detailed Description:


Premature vascular disease in young hyperlipidemic subjects remains a major unsolved health problem in terms of pathogenesis and treatment. Research advances have led to new markers for genetic analysis, new methods for studying lipoprotein metabolism and atherosclerotic disease progression and regression, and reference values for diagnosing hyperlipidemia.


Attention is focused on the molecular, genetic and pathophysiological basis of the inherited dyslipoproteinemias associated with premature coronary artery disease with particular reference to familial combined hyperlipidemia, familial moderate hypercholesterolemia, familial elevation of Lp(a) and the carrier state for homocysteinemia. Coordinated studies of characterization of the pathophysiological state, the identification of possible molecular biological defects and the evaluation of these results in families by statistical genetic techniques are performed in each disorder. The role of protein mediated intravascular modification of lipoproteins and the role of oxidation of lipoproteins in each disorder will lead to characterization of these genetic lipoprotein abnormalities. The study is a subproject within a program project grant.

The subproject on the genetics of familial combined hyperlipidemia (FCHL) was renewed in 1999 through 2010 to continue mapping the apoB elevating gene l(BEL) level using a genomic search in pedigrees with familial combined hyperlipidemia. The major focus of the genetic analyses are the 15 FCHL families under the BEL segregation analysis model in a power analysis. These families also show the most evidence for segregation at an apoB elevating gene locus. Genotyping for a 10 centimorgan genomic scan has been completed for these families.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Relatives of patients with familial combined hyperlipidemia
All participants related to a patient with familial combined hyperlipidemia
  Contacts and Locations
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Please refer to this study by its identifier: NCT00005313

Sponsors and Collaborators
University of Washington
National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator: John Brunzell University of Washington
  More Information


Responsible Party: John Brunzell, Professor Emeritus, Active, Medicine/Division of Metabolism, University of Washington Identifier: NCT00005313     History of Changes
Other Study ID Numbers: 10927-B
P01HL030086 ( U.S. NIH Grant/Contract )
Study First Received: May 25, 2000
Last Updated: December 9, 2014

Additional relevant MeSH terms:
Cardiovascular Diseases
Heart Diseases
Hyperlipidemia, Familial Combined
Arterial Occlusive Diseases
Vascular Diseases
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn processed this record on August 16, 2017