亚甲基四氢叶酸还原酶A1298C基因多态性在脑静脉血栓形成中的作用
Role of methylenetetrahydrofolate reductase A1298C polymorphism in cerebral venous thrombosis.
作者信息
Fekih-Mrissa Najiba, Klai Sarra, Mrad Meriem, Zaouali Jamel, Sayeh Aycha, Nsiri Brahim, Gritli Nasreddine, Mrissa Ridha
机构信息
Laboratory of Molecular Biology, Department of Hematology, Military Hospital, Tunis, Tunisia.
出版信息
Blood Coagul Fibrinolysis. 2013 Mar;24(2):118-9. doi: 10.1097/MBC.0b013e32835707cd.
The association between the methylenetetrahydrofolate reductase (MTHFR) gene and cerebral venous thrombosis (CVT) remains controversial. This study principally investigated the potential role of the MTHFR A1298C variant and CVT. The genotyping of the A1298C variant of the MTHFR gene was performed in 35 CVT patients and 200 healthy controls. The frequency of A1298C genotype among CVT patients was significantly higher compared with controls (P < 10(-3)), suggesting an association between this polymorphism and CVT. To our knowledge, there are no previous reports assessing the correlation between the MTHFR A1298C variant and CVT. Large study populations would be required to understand the contribution of this marker in the risk of CVT.
亚甲基四氢叶酸还原酶（MTHFR）基因与脑静脉血栓形成（CVT）之间的关联仍存在争议。本研究主要调查了MTHFR A1298C变异体与CVT的潜在作用。对35例CVT患者和200例健康对照进行了MTHFR基因A1298C变异体的基因分型。CVT患者中A1298C基因型的频率显著高于对照组（P<10⁻³），提示该多态性与CVT之间存在关联。据我们所知，以前没有关于评估MTHFR A1298C变异体与CVT之间相关性的报道。需要大量的研究人群来了解该标志物在CVT风险中的作用。
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