MI_70_samples_upload_mdpi.xlsx

SYNE1 gene novel variant is associated with myocardial infarction in young people with a family history of premature atherosclerosis.Background. Premature myocardial infarction (MI) risk factors, including genetic, are crucial for an individual risk stratification. The aim of the study was to investigate the role of genetic variants in young patients with MI and a family history of premature atherosclerosis (FHpa).Methods. The studied group consisted of 70 patients aged 26-49 (mean 43.1, SD ±4.3; 17 women, 53 men), with MI and with FHpa. The targeted enrichment library was prepared and analyzed using the Next-Generation Sequencing method. The results of sequencing were compared to data from the reference control population consisting of 597 people with no history of MI (418 women, 179 men) aged 18-83 (mean 40.5, SD ± 12.4) using Propensity Score Matching.Results.<i> SYNE1</i> gene variant c.20396+22A&gt;G occurs with a significantly higher incidence in the studied group compared to the control population (OR 4.80 95%CI 1.43-14.45; p=0.005) as a whole and when matched by age and gender (OR 9.31 95%CI 1.64-95.41; p=0.004). There were no statistically significant differences in the incidence of variants related to familial hypercholesterolemia (<i>LDLR</i> c.667G&gt;A, <i>PCSK9</i> c.658-36G&gt;A, and <i>APOB</i> c.12382G&gt;A) between both cohorts.Conclusion. A novel variant of the <i>SYNE1</i> gene is associated with MI in young patients with FHpa.