Molecular Determinants of Coronaruy Artery Disease (GeneQuest)

This study is ongoing, but not recruiting participants.
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by:
The Cleveland Clinic Identifier:
First received: December 27, 2007
Last updated: January 23, 2012
Last verified: January 2012
The purpose of this study is to discover genes that may cause Coronary Artery Disease (CAD) or Arteriovenous Malformation (AVM).

Coronary Artery Disease
Arteriovenous Malformations
Myocardial Infarction

Study Type: Observational
Study Design: 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

Resource links provided by NLM:

Further study details as provided by The Cleveland Clinic:

Primary Outcome Measures:
  • Coronary Artery Disease [ Time Frame: 2009 ]
  • Arteriovenous Malformation [ Time Frame: 2009 ]

Secondary Outcome Measures:
  • 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.

Estimated Enrollment: 2980
Study Start Date: January 1995
Estimated Study Completion Date: December 2015
Estimated Primary Completion Date: December 2015 (Final data collection date for primary outcome measure)
premature CAD and MI, AVM

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.

Ages Eligible for Study:   45 Years and older   (Adult, Senior)
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
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00590291

Sponsors and Collaborators
The Cleveland Clinic
National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator: Qing Wang, PhD The Cleveland Clinic
  More Information

Responsible Party: Stanley Hazen, MD, PhD, Cleveland Clinic Identifier: NCT00590291     History of Changes
Other Study ID Numbers: GeneQuest  1P50HL077107-03  IRB4333 
Study First Received: December 27, 2007
Last Updated: January 23, 2012

Keywords provided by The Cleveland Clinic:
Coronary Artery Disease
Arteriovenous Malformations
Myocardial Infarction
Heart Attack

Additional relevant MeSH terms:
Congenital Abnormalities
Arteriovenous Malformations
Vascular Malformations
Cardiovascular Abnormalities
Coronary Artery Disease
Myocardial Ischemia
Coronary Disease
Myocardial Infarction
Pathologic Processes
Heart Diseases
Cardiovascular Diseases
Arterial Occlusive Diseases
Vascular Diseases
Neoplasms, Vascular Tissue
Neoplasms by Histologic Type
Neoplasms processed this record on January 19, 2017