Arterial ischemic stroke (AIS) in young adults is less common in older adults, but the underlying pathogenesis and risk factors are more multi-faceted. The role of inherited thrombophilia such as 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism, (C677T and A1298C), factor V of Leiden (FVL) polymorphism, and the prothrombin G20210A mutations remains unclear. This study aims to evaluate the role of prothrombin genetic factor in AIS among young adults in Tunisia and to assess the synergistic effect between thrombogenic mutations in the pathogenesis of AIS. In this case-control study, blood samples were collected from patients and healthy controls, all matched for age and gender. The difference between them is evaluated by using the chi-square test. The odds ratio (OR) was carried out to evaluate the associations between each polymorphism and AIS risk using a binary logistic regression model. Values were considered statistically significant when p < 0.05. Patients carrying simultaneously the MTHFR polymorphisms (677T and 1298C) have a higher risk to develop AIS compared to controls. The heterozygous variants FVL increased the risk of AIS only when it is associated with MTHFR C677T or MTHFR A1298C polymorphisms. In conclusion, our study confirmed the involvement of MTHFR polymorphisms as AIS’s important risk factors. The existence of FVL polymorphism or prothrombin G20210A mutation alone doesn’t correlate with the occurrence of stroke. We assume that the presence of both MTHFR and FVL polymorphisms has a synergistic effect and increased the risk of the AIS.

年轻人的动脉缺血性卒中 (AIS) 在老年人中不太常见，但潜在的发病机制和危险因素更为多方面。5、10-亚甲基四氢叶酸还原酶（MTHFR）基因多态性、（C677T和A1298C）、莱顿因子V（FVL）等遗传性血栓形成倾向的作用) 多态性，凝血酶原 G20210A 突变尚不清楚。本研究旨在评估凝血酶原遗传因子在突尼斯年轻成人 AIS 中的作用，并评估血栓形成突变在 AIS 发病机制中的协同作用。在这项病例对照研究中，从患者和健康对照中收集了血样，所有患者的年龄和性别均匹配。使用卡方检验评估它们之间的差异。进行优势比 (OR) 以使用二元逻辑回归模型评估每个多态性与 AIS 风险之间的关联。当 p < 0.05 时，值被认为具有统计学意义。与对照组相比，同时携带 MTHFR 多态性（677T 和 1298C）的患者发生 AIS 的风险更高。杂合变体 FVL 仅在与 MTHFR C677T 或 MTHFR A1298C 多态性相关时才增加 AIS 的风险。总之，我们的研究证实了 MTHFR 多态性作为 AIS 的重要危险因素的参与。单独存在FVL多态性或凝血酶原G20210A突变与卒中的发生无关。我们假设 MTHFR 和 FVL 多态性的存在具有协同效应并增加了 AIS 的风险。