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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00590291
Recruitment Status : Recruiting
First Posted : January 10, 2008
Last Update Posted : February 3, 2017
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Qing Wang, The Cleveland Clinic

December 27, 2007
January 10, 2008
February 3, 2017
January 1995
April 2018   (Final data collection date for primary outcome measure)
  • Coronary Artery Disease [ Time Frame: 2009 ]
  • Arteriovenous Malformation [ Time Frame: 2009 ]
Same as current
Complete list of historical versions of study NCT00590291 on Archive Site
Myocardial Infarction [ Time Frame: 2009 ]
Same as current
Not Provided
Not Provided
Molecular Determinants of Coronaruy Artery Disease
Genetic Studies of Coronary Artery Disease and Arteriovenous Malformation (GeneQuest) Molecular Determinants of Coronary Artery Disease
The purpose of this study is to discover genes that may cause Coronary Artery Disease (CAD) or Arteriovenous Malformation (AVM).
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.
Observational Model: Family-Based
Time Perspective: Retrospective
Not Provided
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.
Non-Probability Sample

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.

  • Coronary Artery Disease
  • Arteriovenous Malformations
  • Myocardial Infarction
Not Provided
  • Cases
    premature CAD and MI, AVM
  • Controls
    No CAD, MI, AVM
Not Provided

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Same as current
April 2018
April 2018   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: All
45 Years and older   (Adult, Older Adult)
Contact: Rajani Tendulkar, MHA 216-444-0251
Contact: Qing Wang 216-445-0570
United States
1R01HL121358 ( U.S. NIH Grant/Contract )
Not Provided
Not Provided
Qing Wang, The Cleveland Clinic
The Cleveland Clinic
National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator: Qing Wang, PhD The Cleveland Clinic
The Cleveland Clinic
February 2017