Researchers identify genetic markers for cardiovascular disease

A team of researchers from Girona Biomedical Research Institute Dr. Josep Trueta (IDIBGI), Bellvitge Biomedical Research Institute (IDIBELL), IRB Barcelona, Institut Català d'Oncologia (ICO), Germans Trias i Pujol Research Institute (IGTP) has worked together to identify possible genes associated with certain metabolites - molecules involved in the body's biochemical processes - and cardiovascular risk.

The scientists analyzed the levels of 187 such compounds in plasma samples from 4,974 participants in the Catalan GCAT cohort. They integrated this data with other genetic databases from European individuals, reaching a total of 40,000, and re-analysed the data. As a result, they identified 44 genetic regions associated with these metabolites.

To identify how these genetic regions influence metabolites, the findings were combined with gene expression panels from 58 different tissue and cell types. The researchers were able to pinpoint the genes that, through modulation of their expression, are responsible for the levels of these molecules in the body.

This same methodology was applied to data from three European studies involving around 700,000 participants, aiming to study the relationship between gene expression and cardiovascular events, such as heart attacks.

Finally, the researchers explored the causal relationship between gene expression, metabolite levels, and cardiovascular risk through a genetic mediation analysis.

The study underscores the importance of large-scale genetic research for identifying new biomarkers and therapeutic strategies. Identifying key genes associated with metabolites and cardiovascular risk offers the potential to develop personalized treatments, enhancing the prevention and treatment of cardiovascular diseases, which remain one of the leading causes of mortality worldwide.

Source:

Germans Trias i Pujol Research Institute

Journal references:

Carreras-Torres, R., et al. (2024). Multiomic integration analysis identifies atherogenic metabolites mediating between novel immune genes and cardiovascular risk. Genome Medicine. doi.org/10.1186/s13073-024-01397-2