Lipoprotein genetics


Supervised by: Professor Sally McCormick 

Elevated levels of lipoprotein(a) [Lp(a)] are a major independent risk factor for premature cardiovascular disease (CVD). Lp(a) levels are hugely influenced by the LPA gene, however, the gene is largely uncharacterised due to its highly repeatitive nature. This project aims to use new sequencing technology to gain sequence data for the repeatitive region of LPA to identify SNPs in this region associated with either elevated (or low) Lp(a) levels in a local population.

In contrast, elevated levels of high density lipoproteins (HDL) are protective against developing CVD. The

genetic basis for high HDL levels is not well understood, however, recent GWAS studies have identified 38 loci associated with HDL levels. This project aims to gain sequence data from these 38 loci in individuals with high HDL levels. Functional studies will be performed on gene variations of interest in the LPA and HDL-associated genes.