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Apolipoprotein A-I Gene Polymorphism and Atherosclerosis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00005183
Recruitment Status : Completed
First Posted : May 26, 2000
Last Update Posted : December 21, 2017
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by:
Tufts University

Brief Summary:
To further define the linkage of the Apo A-I gene polymorphism to genetic high density lipoprotein (HDL) deficiency and premature coronary artery disease. Also, to utilize this gene marker to define the prevalence of genetic HDL deficiency in patients with premature coronary disease and to determine the relative risk of premature coronary disease associated with the Apo A-I gene polymorphism.

Condition or disease
Coronary Arteriosclerosis Cardiovascular Diseases Heart Diseases Atherosclerosis

Detailed Description:


Apolipoprotein (apo) A-I is the major protein constituent of plasma high density lipoproteins (HDL). HDL has been shown to promote cholesterol efflux from cells in vitro. Decreased plasma concentrations of HDL cholesterol and Apo A-I have been associated with premature coronary artery disease due to atherosclerosis in our society. A genetic HDL deficiency, familial hypoalphalipoproteinemia, appears to be fairly common in patients with premature coronary artery disease. The gene for Apo A-I has been isolated and characterized. Preliminary studies indicate that a specific Apo A-I gene polymorphism, detected following Pst I restriction enzyme digestion utilizing a specific probe, is significantly more common in subjects with premature coronary artery disease than in normal control subjects, and in some kindreds is associated with genetic HDL deficiency. This Apo A-I gene polymorphism is due to an alteration in the Apo A-I, Apo C-III intergenic region, near the 3' end of the coding region for Apo A-I. These observations have important implications for the detection of individuals genetically predisposed to premature coronary disease, as well as for providing insights into the mechanism leading to atherosclerosis.


Questionnaires were used to obtain information from each patient on known risk factors and diet. Fasting blood samples were obtained for lipoprotein analysis. Standard clinical and cardiological information and fasting blood samples were also collected for the cases. Blood was drawn for the DNA studies. A determination was made as to whether the Pst I Apo A-I gene polymorphism was associated with diminished levels of plasma Apo A-I or HDL cholesterol, by analysis of the distribution of these variables in cases and controls, after controlling for other known risk factors. Linkage analysis was used to determine whether the Pst I Apo A-I gene polymorphism co-segregates with premature coronary disease, or with diminished levels of plasma Apo A-I, or HDL cholesterol in 50 kindreds. A characterization was made of the abnormality in the Apo A-I, Apo C-III, Apo A-IV gene complex in patients with HDL deficiency, premature coronary disease, and the Pst I Apo A-I gene polymorphism.

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Study Type : Observational
Official Title: Apolipoprotein A-I Gene Polymorphism and Atherosclerosis
Study Start Date : December 1985
Study Completion Date : November 1988

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Information from the National Library of Medicine

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Ages Eligible for Study:   up to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
No eligibility criteria
Schaefer EJ, McNamara JR, Mitri C, Ordovas JM: Genetic High Density Lipoprotein Deficiency States. Atherosclerosis VII. Proceedings of the Seventh International Symposium on Atherosclerosis, Excerpta Medica, Amsterdam, p 183-186, 1986

Layout table for additonal information Identifier: NCT00005183    
Other Study ID Numbers: 1061
R01HL035243 ( U.S. NIH Grant/Contract )
First Posted: May 26, 2000    Key Record Dates
Last Update Posted: December 21, 2017
Last Verified: December 2017

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Cardiovascular Diseases
Heart Diseases
Coronary Artery Disease
Myocardial Ischemia
Arterial Occlusive Diseases
Vascular Diseases
Coronary Disease