Dyslipidemia is a common disorder associated with abnormal lipid levels, usually elevated, commonly associated with the risk of a cardiovascular event. Our understanding of the genetics of the disease relies mainly on common polymorphisms affecting the levels of proteins involved in lipids metabolism. In contrast, changes in the areas of the genome containing the information for the building blocks of proteins can alter the structure and function of these proteins. These DNA changes tend to be less common in the genome and currently we are only aware of a small number of them associated with lipids associated disorders, some of them severe.

The largest consortium of scientists working on the genetics of plasma lipids, the Global Lipids Genetic Consortium (GLGC), has recently used more than 300,000 individuals to study these protein changing mutations and identified a number of them both in novel and previously reported areas of the genome as associated with one or more of the four main measured lipids traits: high density lipoprotein (HDL), low density lipoprotein (LDL), triglycerides and total cholesterol levels. These four commonly measured lipids traits though, are groupings of other lipids subfractions that can have very different compositions and properties not evident in the overall grouping, thus making the understanding of the specific action of the gene of interest difficult. Although we can sometimes infer the action of the genes through model organisms or laboratory experiments, these are not always accurate representations of how things work in the human body.