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Genome-wide Association study of Aortic Valve Stenosis

Aortic valve stenosis is the third leading cause of adult heart disease and the most common form of acquired heart valve disease in developed countries. Although some risk factors are known, the true interactions are complex and involve age, lifestyle factors, and genetics.

Project Leaders Angela Brooks-Wilson
Project Co-Investigators Bruce McManus, Peter Paré, Maziar Rahmani, John Rioux, Jean-Claude Tardif
Involved Organizations
Canada's Michael Smith Genome Science Centre
Funding Agencies
Canadian Institutes of Health Research
Diagram showing the cross section of a human heart (Getty Images)

Heart Diagram


The aortic valve is the part of the heart that sits between the left ventricle and the aorta. It controls the flow of oxygen-rich blood coming from the lungs into the aorta and therefore to the rest of the body. Aortic stenosis eventually leads to a decrease in the supply of oxygen to the tissues and organs of the body. Stenosis means narrowing; and in aortic stenosis, the narrowing of the delicate tissues of the aortic valve is caused by:

  • An initial loss of collagen,
  • followed by calcium being deposited in the valve tissues (calcification),
  • leading to fluid turbulence across the valve,
  • causing further scarring and thickening of the aortic valve.

Unlike other heart diseases Aortic Stenosis does not seem to be caused by lifestyle choices such as diet or smoking.

We are interested in determining if disease progression in Aortic Stenosis involves genetic variants of genes that affect the complex molecular processes involved in Aortic Stenosis (such as collagen loss, calcification and accumulation of scar tissue).

Our Objective is to identify genomic regions, genes and genetic variants involved in susceptibility to, or severity of, Aortic Stenosis, with the ultimate goal of defining genetic pathways and molecular mechanisms for Aortic Stenosis. Once we know why some people develop this disease, while others live into old age with healthy aortic valves we may be able to develop treatments for susceptible individuals.

To achieve our research objectives we are:

  • Validating previously identified SNPs associated with Aortic Stenosis from a pool-based GWAS by confirming the DNA sequence of these genetic variants from individual participants in this study.
  • Screening independent populations for the presence of the genes and genetic variants suspected to be involved in Aortic Stenosis, as identified above, in order to look at their occurrence in the general population.
  • Finally we will map and identify those genes and gene variants which we believe to be responsible for the development of Aortic Stenosis onto regions of the human genome thought to be associated with Aortic Stenosis.


Contact Information

For all project related inquires please contact:

Stephanie McInnis, Project Coordinator
Genome Sciences Centre, BC Cancer Agency
Phone: 604-675-8000 ext. 7965
Fax: 604-675-8178