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Approved Research

Investigation of genetic variants associated with circulating levels of cardiometabolic biomarkers and outcomes.

Principal Investigator: Miss Alice Giontella
Approved Research ID: 76658
Approval date: November 2nd 2021

Lay summary

Several metabolic biomarkers including lipids, proteins, lipoproteins contribute to the processes that lead to cardiovascular diseases.

Some genetic mutations, also called loss-of-functions variants, are responsible to disrupt the function of the genes that encode for the proteins and are deeply implicated or even causative of a specific disease.

Our aim is to identify those genetic variants that influence the level of a panel of circulating biomarkers, that we think are involved in cardiometabolic diseases such as diabetes and other cardiovascular diseases.

We and others have already shown, in a big study in Sweden called the Malmö Diet and Cancer, the potential importance of their role as biomarkers, but now we want to understand more about their genetic s.

Thus, our plan is to use the UK Biobank cohort, which includes ~500,000 participants, (i) to identify associations of the biomarkers with cardiometabolic and cardiovascular disease; (ii) to assess the influence of the loss-of-function variants on their circulating level; and (iii) to test for their causative effect by statistical methods.

This research has relevant clinical impact because would help i) to clarify the role of metabolic biomarkers in the mechanisms that cause cardiovascular diseases; ii) to identify new targets for drugs; iii) to identify subjects that are at higher or lower risk based on their genetic background.