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Dag Leonard has received one of the Uppsala EpiHealth grants for 2024

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Dag Leonard’s research group at Uppsala University has years of experience of autoimmune diseases genetic and epigenetic studies. In this project the connection between autoimmune disease polygenic risk and cardiovascular diseases will be analyzed in the general population using the EpiHealth cohort.

Cardiovascular diseases (CVD) remain the leading cause of mortality today in developed countries. In addition to association with lifestyle and diverse environmental risk factors these diseases have strong genetic contribution. Another group of multifactor human diseases show 2-3 times increased cardiovascular risk in patients: autoimmune diseases, including Rheumatoid arthritis and Systemic lupus erythematosus. This supports the importance of the adaptive immune system and chronic inflammation in CVD pathogenesis. But what mechanisms are behind this findings? We propose that genetic analysis based on patients with autoimmune disorders can give us insights for revealing universal immune-mediated mechanisms of CVD, important in the general population.

Immuno-genetics in CVD pathogenesis

The increased CVD risk for patients with chronic inflammatory processes and autoimmune diseases is well known and these diseases are sometimes considered to promote “accelerated atherosclerosis”. Previous research in Dag Leonard´s group supported the role of genetics in CVD development in these autoimmune diseases. In this project the connection between autoimmune disease polygenic risk and cardiovascular diseases will be analyzed using the EpiHealth cohort. 

Polygenic score development and analysis

The methods for the study will include development cardiovascular-related genetic risk scores (GRS) based on autoimmune patients genetic data and application of these metrics to the EpiHealth cohort. EpiHealth highly detailed data will also allow us to analyze GRS associations in relation to lifestyle, environmental factors and potential serum biomarkers. The group will compare the GRS results with other genetic and bioinformatic methods, including Mendelian randomization and regulatory elements and pathways analysis.


About Dag Leonard