Can coronary artery disease be detected early by including a polygenic (genetic) risk assessment?
The Early detection of coronary artery disease by polygenic and metabolic risk scoring (EDCAD-PMS) study aims to identify whether a polygeneic risk score (PRS) can predict the presence of coronary calcium in the arteries, which occurs when plaque is present.
Recruitment for this study has ended.
You can contact the Study Coordinators on:
T: (03) 8532 1135
Coronary artery disease (CAD) is a major cause of illness and death in Australia. The current approach to preventing its consequences (heart attacks and angina) is to determine the level of risk based on risk factors such as blood pressure, cholesterol and diabetes, and to start treatment in those at high risk. Statins are a class of drugs often prescribed by doctors to help lower cholesterol levels in the blood. By lowering cholesterol levels, you can help prevent heart attacks and stroke.
Traditional risk factors only allow us to identify some people at risk, and therefore we are missing some of those who need early treatment to prevent a heart attack/stroke and potentially unnecessarily treating others. We, therefore, need better ways of identifying those who would benefit from treatment. We are trying to improve the prediction process to better identify those who may benefit from treatment.
Our genes contain the instructions for how our body works, and this can be thought of as a book. While each of us has a very similar book of instructions or set of genes, there are some differences between us that can affect how our body works. Sometimes these changes mean some of us are more likely to develop certain types of diseases. These differences between individuals are referred to as genetic variants. For CAD there are thought to be many genetic changes that may be associated with increased risk of having a serious cardiac event. Measurement of the many genetic changes associated with a disease is called a polygenetic risk score (PRS). We are examining participant’s genes to see if the genetic changes that are associated with CAD are also associated with coronary calcium and who are most likely to benefit from medication such as statins.
To perform the genetic risk score, we collected a blood sample for genetic analysis and asked participant to have a standard “CAT” scan (CT) to identify if they have coronary calcification (a build-up of calcium in the heart’s arteries). If calcification was present, we asked individuals to undertake a CT coronary angiogram (which involves injection of a contrast dye). We are now analising whether there is a relationship between genetic changes and the presence of CAD identified via a CT angiogram.