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Approved Research

Identifying functional variants associated with lipoprotein(a) levels

Principal Investigator: Professor Sally McCormick
Approved Research ID: 73678
Approval date: July 19th 2021

Lay summary

Cardiovascular diseases (CVDS) are the leading cause of mortality and morbidity globally.  Research is focused on methods for the early detection of CVDs rather than just treatment. To be able to achieve this, we need to identify what changes in genes are likely to be associated with an increased risk of CVDs. The underlying cause of most heart diseases is what is known as "atherosclerosis". Atherosclerosis is characterized by the accumulation of fatty materials in the vessel's inner walls. Over time, this build-up of fats narrows the vessels, limiting the flow of oxygenated blood to vital organs including the heart and brain. Among the fatty components that may lead to atherosclerosis is lipoprotein (a), commonly known as Lp(a). Over the past decade, it was proven that high Lp(a) levels were an independent risk factor for heart diseases through various mechanisms. Interestingly, Lp(a) levels vary broadly up to 1000 folds between individuals however, levels are mainly heritable and not affected by age, gender, nor any environmental factors. This research focuses on understanding the genetic determinants of Lp(a) levels. In other words, we are interested in screening certain genes and identifying the changes in them that are associated with high Lp(a) levels and consequently increased risk of cardiovascular diseases. The impact of these changes on the structure and function of the protein they code for will then be assessed. This will contribute to a better understanding of the genetic basis of cardiovascular diseases as it will give a new glimpse into new loci that are possibly associated with their increased risk and can be identified during the genetic testing. The project duration is 3 years.