Metabolic and genetic profiling of young adults with and without a family history of premature coronary heart disease (MAGNETIC). Study design and methodology

Introduction: First-degree relatives of individuals with premature coronary artery disease (CAD) are at increased risk of CAD. The research hypothesis of this project assumes that there are differences in the metabolic profiles between individuals with and without a positive family history (FH) of premature CAD. Material and methods: The study group will comprise healthy patients (n = 500) aged 18-35 years with a FH of premature CAD, and the control group (n = 500) will consist of healthy subjects without a FH of premature CAD. Blood tests assessing the lipid profile will be carried out. Patients will respond to a questionnaire regarding FH and dietary habits. Measurement of carotid intima media thickness will be performed. Analysis of single-nucleotide polymorphisms (SNPs) associated with premature CAD will be carried out for every patient. Metabolomic profiling will be performed using a high-sensitivity Bruker AVANCE II 600 MHz NMR spectroscope. Results: The results of this study will include a comparison of metabolic profiles assessed by 1H-NMR spectroscopy in the study and control groups and the results of analyses of the relationship between the metabolic profiles and genetic risk score calculated based on evaluated SNPs associated with premature CAD. Conclusions: This study will deepen our knowledge of the aetiopathogenesis of atherosclerosis by identifying metabolic patterns associated with a positive FH of premature CAD. Obtaining a detailed FH will enable adjustments for major risk factors of premature CAD in the proband's first-degree relatives. This research project also provides a chance to discover new biomarkers associated with the risk of premature CAD.