Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia
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|ClinicalTrials.gov Identifier: NCT00005313|
Recruitment Status : Completed
First Posted : May 26, 2000
Last Update Posted : December 11, 2014
|Condition or disease|
|Atherosclerosis Cardiovascular Diseases Heart Diseases Hypercholesterolemia Hyperlipidemia, Familial Combined|
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.
|Study Type :||Observational|
|Actual Enrollment :||450 participants|
|Official Title:||Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia|
|Study Start Date :||April 2001|
|Primary Completion Date :||March 2003|
|Study Completion Date :||March 2003|
- No outcome measures for this research [ Time Frame: 1980-2003 ]Analysis of Familial Data
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00005313
|Principal Investigator:||John Brunzell||University of Washington|