Department of Neurogenetics, National Institute of Neurogenetics and Neurosurgery, Manuel Velasco Suárez of Mexico, Mexico City, Mexico.
Int J Stroke. 2010 Apr;5(2):80-5. doi: 10.1111/j.1747-4949.2010.00412.x.
The pathogenesis of spontaneous cervical artery dissection remains unknown. We examined the association between different polymorphisms frequently found in young patients with cryptogenic stroke [methylenetetrahydrofolate reductase (MTHFR) C677T, factor II (prothrombin) G20210A, factor V G1691A (Leiden), nitric oxide synthase 3 (NOS3) intron 4 VNTR, and apolipoprotein E (APOE) epsilon4 gene] in patients with a cerebral infarct caused by spontaneous cervical artery dissection.
Forty-eight patients (27 males) and 96 matching control subjects were recruited. Clinical history, including cardiovascular risk factors, was assessed in all subjects. Genotypes were determined by a polymerase chain reaction with and without a restriction fragment length polymorphism. The genotypes and allele frequencies of the five genetic variants studied were compared between spontaneous cervical artery dissection cases and controls. We also incorporated our data into a meta-analysis of the MTHFR/C677T variant.
Of 48 patients with spontaneous cervical artery dissection (28 vertebral and 20 carotid), the mean age of the patients was 36.6 +/- SD 9.9 years. There were no significant associations between the alleles of the five genetic polymorphisms studied and spontaneous cervical artery dissection. In the meta-analysis of the MTHFR/C677T variant, a total of 564 individuals (231 cases and 333 controls) were analysed; no significant association was observed.
The results from this exploratory case-control study show the lack of an association between MTHFR, factor II G20210A, factor V G1691A, NOS3, intron 4 VNTR, and APOE epsilon4 gene polymorphisms and the development of spontaneous cervical artery dissection. Our findings contribute towards a better understanding of the genetic risk factors associated with spontaneous cervical artery dissection.
自发性颈内动脉夹层的发病机制尚不清楚。我们研究了不同的多态性与隐源性卒中患者（亚甲基四氢叶酸还原酶（MTHFR）C677T、凝血因子 II（凝血酶原）G20210A、凝血因子 V G1691A（莱顿）、一氧化氮合酶 3（NOS3）内含子 4 VNTR 和载脂蛋白 E（APOE）ε4 基因）之间的关系，这些患者的脑梗死是由自发性颈内动脉夹层引起的。
招募了 48 名患者（27 名男性）和 96 名匹配的对照者。对所有受试者的临床病史，包括心血管危险因素进行评估。通过聚合酶链反应和不依赖聚合酶链反应的限制性片段长度多态性确定基因型。比较了自发性颈内动脉夹层病例与对照组之间五种遗传变异的基因型和等位基因频率。我们还将我们的数据纳入了 MTHFR/C677T 变异的荟萃分析。
48 例自发性颈内动脉夹层患者（28 例椎动脉和 20 例颈动脉），患者的平均年龄为 36.6±9.9 岁。在研究的五种遗传多态性中，没有发现等位基因与自发性颈内动脉夹层之间存在显著关联。在 MTHFR/C677T 变异的荟萃分析中，共分析了 564 名个体（231 例病例和 333 例对照），未观察到显著关联。
这项探索性病例对照研究的结果表明，MTHFR、凝血因子 II G20210A、凝血因子 V G1691A、NOS3、内含子 4 VNTR 和 APOE ε4 基因多态性与自发性颈内动脉夹层的发生之间不存在关联。我们的研究结果有助于更好地理解与自发性颈内动脉夹层相关的遗传危险因素。
