Molecular Determinants of Coronaruy Artery Disease (GeneQuest)
The purpose of this study is to discover genes that may cause Coronary Artery Disease (CAD) or Arteriovenous Malformation (AVM).
Coronary Artery Disease
|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|
- Coronary Artery Disease [ Time Frame: 2009 ] [ Designated as safety issue: No ]
- Arteriovenous Malformation [ Time Frame: 2009 ] [ Designated as safety issue: No ]
- Myocardial Infarction [ Time Frame: 2009 ] [ Designated as safety issue: No ]
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.
|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
No CAD, MI, 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.
|Principal Investigator:||Qing Wang, PhD||The Cleveland Clinic|