Genetics and cardiovascular disease: Design and development of a DNA biobank

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Journal Article

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Interim status: Citation only.

Jayasinghe, S. R., Mishra, A., Van Daal, A., & Kwan, E. (2009). Genetics and cardiovascular disease: Design and development of a DNA biobank. Experimental and clinical cardiology, 14(3), 33-37.

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2009 HERDC submission. FoR code: 1103

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Coronary artery disease (CAD) is a complex disease with environmental and genetic determinants. Many other cardiovascular (CV) conditions also have a genetic basis. A positive family history of CV disease in first-degree relatives is a strong independent risk factor for CAD as well as several other cardiac disorders. This genetic susceptibility to CV diseases will be understood more clearly when combined with genomics, proteomics and genotyping. The Department of Cardiology at Gold Coast Hospital (Queensland, Australia) with the Faculty of Health, Science and Medicine at Bond University (Queensland, Australia) established the Gold Coast Cardiovascular DNA bank in 2006. The dataset on each individual volunteer includes coronary angiograms, clinical information (including a coronary risk factor profile), biochemical (including cardiac biomarkers) and hematological parameters, and electrocardiograms and echocardiograms. The establishment of the DNA biobank was associated with several key challenges, both technical and logistic.

Given the comprehensive nature of the information gathered, the present study has the added potential of identifying genes associated with nonischemic cardiomyopathies, valvular heart disease, congenital heart diseases and other cardiomyopathies. Pooling data from results obtained here with multiple existing DNA biobanks and registries will help in finding answers to the genetic conundrum in CV diseases. The present DNA biobank will serve as a resource well into the future as the technology and science of medical genetics evolve.

The most frequent pathology encountered in the biobank is CAD. The significance of the familial occurrence of CAD has been the focus of research for at least 50 years, with a positive family history of CV disease emerging as an independent predictor of risk in the development of CAD. By applying the knowledge learned from studies on CV genetics together with the data from the DNA biobank, scientists may be able to effectively prevent and treat CV diseases in the future.

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