Try the modernized beta website. Learn more about the modernization effort.
Working… Menu

Molecular Determinants of Coronaruy Artery Disease (GeneQuest)

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: NCT00590291
Recruitment Status : Terminated (Sequencing completed early)
First Posted : January 10, 2008
Last Update Posted : May 17, 2021
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
John Barnard, The Cleveland Clinic

Brief Summary:
The purpose of this study is to discover genes that may cause Coronary Artery Disease (CAD) or Arteriovenous Malformation (AVM).

Condition or disease
Coronary Artery Disease Arteriovenous Malformations Myocardial Infarction

Detailed Description:
The purpose of this study is to discover genes that may cause Coronary Artery Disease (CAD) or Arteriovenous Malformation (AVM). Many human diseases are inherited or passed from parent to child in families. These diseases occur because of damage to a gene(s), the genetic material that is also called DNA. Scientists can now use modern molecular techniques to locate and to find certain genes within the DNA (genetic material) of a person, and to follow their inheritance in a family. To find these disease-causing genes requires studies of many affected with the disease and their family members. The purpose of this study is to locate and to find the genes for coronary artery disease (CAD) which occurs when one or more of the arteries that carry oxygen-rich blood from your heart to the rest of your body develop blockages; or, arteriovenous malformation (AVM) which causes abnormal vascular connections between arteries and veins, particularly near the heart. Findings of the genes causing CAD and AVM will have far-reaching effect on the diagnosis, treatment, and prevention of coronary artery disease and arteriovenous malformation. These studies will lead to possible genetic diagnosis, early detection of persons at risk for developing CAD or AVM (even in the absence of symptoms), development of effective drugs, more rational and specific therapeutic interventions, treatments and ultimately, prevention of coronary heart disease. Approximately 3-5 years are required to find one human disease gene.

Layout table for study information
Study Type : Observational
Actual Enrollment : 1461 participants
Observational Model: Family-Based
Time Perspective: Retrospective
Official Title: Genetic Studies of Coronary Artery Disease and Arteriovenous Malformation (GeneQuest) Molecular Determinants of Coronary Artery Disease
Actual Study Start Date : January 1995
Actual Primary Completion Date : April 1, 2021
Actual Study Completion Date : April 1, 2021

Resource links provided by the National Library of Medicine

premature CAD and MI, AVM

Primary Outcome Measures :
  1. Coronary Artery Disease [ Time Frame: 2009 ]
  2. Arteriovenous Malformation [ Time Frame: 2009 ]

Secondary Outcome Measures :
  1. Myocardial Infarction [ Time Frame: 2009 ]

Biospecimen Retention:   Samples With DNA
For each participant, 10 ml of blood for lymphoblastoid cell line immortalization, 10-20 ml blood for DNA extraction, or two buccal swabs. If gene identified, blood samples from children to identify the children affected with this gene will be obtained. When available, biopsy tissues for extracting DNA, RNA, protein, or for cell biological studies will be obtained. Human genomic DNA will be prepared from peripheral blood lymphocytes, biopsy tissue, or cell lines derived from Epstein Barr virus transformed lymphocytes 15. DNA will be used for a variety of purposes including linkage analysis and mutational screening.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   45 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Patients with CAD or AVM and their family members and 500 normal control individuals The total number enrolled is 2,980, and approximately 2,000 recruited at the Cleveland Clinic.

We will comply with the NIH guidelines by including women and members of minority groups and their subpopulations in the study.


Inclusion Criteria:

  • Males at least 45 years old and premenopausal females at least 50 years old at the time of onset of any of the following:
  • PTCA
  • MI
  • CABG
  • Must have a living sibling meeting the same criteria.

Exclusion Criteria:

  • Substance Abuse in the absence of angiographic coronary stenosis
  • Congenital Heart Disease

Information from the National Library of Medicine

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 identifier (NCT number): NCT00590291

Layout table for location information
United States, Ohio
Cleveland Clinic
Cleveland, Ohio, United States, 44195
Sponsors and Collaborators
John Barnard
National Heart, Lung, and Blood Institute (NHLBI)
Layout table for investigator information
Principal Investigator: John Barnard, PhD The Cleveland Clinic
Layout table for additonal information
Responsible Party: John Barnard, PI, The Cleveland Clinic Identifier: NCT00590291    
Other Study ID Numbers: GeneQuest
IRB4333 ( Other Identifier: Cleveland Clinic IRB )
1R01HL121358 ( U.S. NIH Grant/Contract )
First Posted: January 10, 2008    Key Record Dates
Last Update Posted: May 17, 2021
Last Verified: May 2021
Keywords provided by John Barnard, The Cleveland Clinic:
Coronary Artery Disease
Arteriovenous Malformations
Myocardial Infarction
Heart Attack
Additional relevant MeSH terms:
Layout table for MeSH terms
Coronary Artery Disease
Myocardial Ischemia
Coronary Disease
Myocardial Infarction
Arteriovenous Malformations
Congenital Abnormalities
Pathologic Processes
Heart Diseases
Cardiovascular Diseases
Arterial Occlusive Diseases
Vascular Diseases
Vascular Malformations
Cardiovascular Abnormalities
Neoplasms, Vascular Tissue
Neoplasms by Histologic Type