血栓形成倾向的多态性 - 因子 V 莱顿 G1691A、凝血酶原 G20210A 和 MTHFR C677T - 在突尼斯脑静脉血栓形成患者中。
Thrombophilic polymorphisms - factor V Leiden G1691A, prothrombin G20210A and MTHFR C677T - in Tunisian patients with cerebral venous thrombosis.
机构信息
Hematology Department, Military Hospital, Place de Tunis, Montfleury, Tunis 1008, Tunisia.
出版信息
J Clin Neurosci. 2012 Sep;19(9):1326-7. doi: 10.1016/j.jocn.2011.11.029. Epub 2012 Jun 20.
Cerebral venous thrombosis (CVT) has been associated with thrombophilic defects. We performed a study to evaluate the role of three single nucleotide polymorphisms (SNP), factor V Leiden G1691A (FVL), prothrombin gene mutation G20210A (FII-G20210A) and methylenotetrahydrofolate reductase variant C677T (MTHFR-C677T), as risk factors for CVT in Tunisian patients. A single center case-control study (26 patients with CVT and 197 controls) was performed. Genomic DNA was tested for the three SNP. The principle finding was the association between FVL and CVT (p<0.001, Odds ratio=6.1, 95% confidence interval=2.3-16.5). However, neither the FII-G20210 (p=0.536) nor the homozygous MTHFR-C677T genotype (p=0.325) variant contributed to the risk of CVT in these Tunisian patients.
脑静脉血栓形成（CVT）与血栓形成倾向缺陷有关。我们进行了一项研究，以评估三个单核苷酸多态性（SNP），即因子 V 莱顿 G1691A（FVL）、凝血酶原基因突变 G20210A（FII-G20210A）和亚甲基四氢叶酸还原酶变体 C677T（MTHFR-C677T），作为突尼斯患者 CVT 的危险因素。进行了一项单中心病例对照研究（26 例 CVT 患者和 197 例对照）。对三种 SNP 进行了基因组 DNA 检测。主要发现是 FVL 与 CVT 之间的关联（p<0.001，优势比=6.1，95%置信区间=2.3-16.5）。然而，FII-G20210 （p=0.536）或纯合子 MTHFR-C677T 基因型（p=0.325）变体均未导致这些突尼斯患者 CVT 的风险增加。
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