Polygenic Risk Score Simulation: A case study of sudden cardiovascular diseases derived from literature insights.
- Author(s)
- Jana Schwarzerova, Lenka Piherova, Petra Polakovicova, Simona Guziurova, Eva Kutilova, Martina Adamova, Alice Krebsova, Valentine Provazník, Wolfram Weckwerth, Radka Sitkova
- Abstract
Sudden cardiovascular diseases, including sudden cardiac arrest (SCA) and myocardial infarction (MI), remain among the leading causes of mortality worldwide. This study employs synthetic data simulations to develop polygenic risk scores (PRS) for improved identification of individuals at elevated risk. Leveraging genetic and phenotypic information from established literature, we modeled associations between multiple single nucleotide polymorphisms (SNPs) and the risk of sudden cardiovascular diseases. Our case study demonstrated that individuals with higher PRS values have a significantly increased risk of SCA and MI, with SNPs such as LTA (252A>G) identified as notable contributors. Additionally, combining PRS with traditional cardiovascular risk factors, such as smoking and diabetes, improved predictive accuracy, underscoring the value of integrating genetic data with clinical variables. These findings highlight the cumulative effect of genetic predispositions in determining cardiovascular risk and suggest potential applications of PRS models in personalized medicine to enhance preventive strategiesWhile promising, the study recognizes limitations related to the use of synthetic data and the need for validation in diverse, real-world populations. Future research should focus on refining these models and exploring additional genetic markers to further improve prediction capabilities.
- Organisation(s)
- Functional and Evolutionary Ecology
- External organisation(s)
- Brno University of Technology, University of Vienna, Charles University Prague, Institute for Clinical and Experimental Medicine, Prague, Czech Republic., University Hospital Ostrava
- Pages
- 5081-5088
- DOI
- https://doi.org/10.1109/BIBM62325.2024.10821852
- Publication date
- 12-2024
- Peer reviewed
- Yes
- Austrian Fields of Science 2012
- 305905 Medical informatics
- Keywords
- ASJC Scopus subject areas
- Genetics, Health Informatics
- Sustainable Development Goals
- SDG 3 - Good Health and Well-being
- Portal url
- https://ucrisportal.univie.ac.at/en/publications/206cd1fe-46ad-403e-82a7-051a677c9188