Intronic SYNE1 Gene Novel Variant Associated with Myocardial Infarction in Young People with a Family History of Premature Atherosclerosis: A Case–Control Study in the Polish Population

Premature myocardial infarction (MI) risk factors, including genetic ones, are crucial for an individual risk stratification. The aim of this study was to investigate the role of genetic variants in young patients with MI and a family history of premature atherosclerosis (FHpa). 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. SYNE1 gene variant NM_182961.4:c.20396+22A>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 (LDLR NM_001195800.2:c.667G>A, PCSK9 NM_182961.4:c.658−36G>A NM_174936.3:c.658−36G>A, and APOB NM_000384.3:c.12382G>A) between both cohorts. A novel variant of the SYNE1 gene is associated with MI in young patients with FHpa.