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Apolipoprotein A-I Gene Polymorphism and Atherosclerosis

Sponsor
Tufts University (Other)
Overall Status
Completed
CT.gov ID
NCT00005183
Collaborator
National Heart, Lung, and Blood Institute (NHLBI) (NIH)
35
Duration (Months)

Study Details

Study Description

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 Intervention/Treatment Phase

    Detailed Description

    BACKGROUND:

    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.

    DESIGN NARRATIVE:

    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.

    Study Design

    Study Type:
    Observational
    Official Title:
    Apolipoprotein A-I Gene Polymorphism and Atherosclerosis
    Study Start Date :
    Dec 1, 1985
    Study Completion Date :
    Nov 1, 1988

    Outcome Measures

    Primary Outcome Measures

      Eligibility Criteria

      Criteria

      Ages Eligible for Study:
      N/A to 100 Years
      Sexes Eligible for Study:
      Male
      Accepts Healthy Volunteers:
      No

      No eligibility criteria

      Contacts and Locations

      Locations

      No locations specified.

      Sponsors and Collaborators

      • Tufts University
      • National Heart, Lung, and Blood Institute (NHLBI)

      Investigators

      None specified.

      Study Documents (Full-Text)

      None provided.

      More Information

      Publications

      Responsible Party:
      , ,
      ClinicalTrials.gov Identifier:
      NCT00005183
      Other Study ID Numbers:
      • 1061
      • R01HL035243
      First Posted:
      May 26, 2000
      Last Update Posted:
      Dec 21, 2017
      Last Verified:
      Dec 1, 2017
      Studies a U.S. FDA-regulated Drug Product:
      No
      Studies a U.S. FDA-regulated Device Product:
      No
      Additional relevant MeSH terms:
      Cardiovascular Diseases
      Heart Diseases
      Atherosclerosis
      Arteriosclerosis
      Coronary Artery Disease
      Myocardial Ischemia

      Study Results

      No Results Posted as of Dec 21, 2017