Comparative genome-wide association of aortic stenosis with and without coronary artery disease

Principal Investigator: Dr. George Thanassoulis

Affiliation: McGill University Health Centre Research Institute

Start Year: 2015

Aortic stenosis (AS), the most common form of valve disease in the western world, affects over 2.5 million people in North America. Despite the large burden of disease, no medical treatments have been shown to slow the development of AS. With the expected increase in the burden of AS in Canada due to the aging population, research focused on understanding the causes of AS is needed to identify new avenues for prevention and treatment. The primary aim of our project is to extend our work using genomic methods to identify biologic mechanisms that may ultimately inform the development of novel therapeutics by capitalizing on large-scale genomic datasets and broad expertise in genomics, epidemiology and bioinformatics, both locally and internationally. Specifically, we will identify regions in the DNA (genetic markers) called single nucleotide polymorphisms (SNP), which can vary between individuals, and associate them with the presence of AS using an approach called genome-wide association study(GWAS). The GWAS method compares the DNA of people that have AS and those that don’t, which potentially identifies genetic markers that differ between those two groups, and thus are associated with the disease. Our project will lead to an improved understanding of the underlying biology of AS and may provide future insights into the prevention and treatment of this disease.