Le Cam-Duchez V, Bagan-Triquenot A, Barbay V, Mihout B, Borg J Y
Unité Fonctionnelle d'Hémostase Vasculaire, Hématologie Biologique, CHU de Rouen - Hôpital Charles Nicolle, 1, rue de Germont, 76031, Rouen Cedex, France.
J Neurol. 2008 Oct;255(10):1521-5. doi: 10.1007/s00415-008-0958-8. Epub 2008 Jul 31.
Protein Z (PZ), a vitamin Kdependent protein, plays a role in inhibiting coagulation. Its plasma level or PZ gene polymorphisms have been discussed as risk factors for stroke with conflicting results reported between various studies. Only one of these polymorphisms was studied in a cohort of patients suffering from cerebral venous thrombosis (CVT).
We performed a retrospective genetic study comparing 100 healthy controls to 54 patients referred to our hemostasis unit after CVT occurrence. We compared the distribution of three PZ gene polymorphisms that may influence PZ plasma levels: A-13G in the promoter and G79A in intron F were tested using previously described techniques, and we developed a technique to evaluate the G-103A in intron A.
The G79A polymorphism was significantly more frequent in patients than in controls (p = 0.012): the presence of at least one A allele led to an odds ratio of 2.57 with a 95 % confidence interval of 1.23-5.34. The A-13G polymorphism also showed a nonsignificant trend towards a higher prevalence in patients.
The G79A polymorphism of the PZ gene was shown to be a new independent risk factor for cerebral venous thrombosis. Nevertheless, these results have to be confirmed by a prospective study including plasma PZ evaluation.
蛋白Z（PZ）是一种维生素K依赖蛋白，在抑制凝血过程中发挥作用。其血浆水平或PZ基因多态性已被作为中风的危险因素进行讨论，不同研究报告的结果相互矛盾。在一组脑静脉血栓形成（CVT）患者中仅对其中一种多态性进行了研究。
我们进行了一项回顾性基因研究，将100名健康对照者与54名CVT发病后转诊至我们止血科的患者进行比较。我们比较了三种可能影响PZ血浆水平的PZ基因多态性的分布情况：启动子区的A-13G和内含子F中的G79A采用先前描述的技术进行检测，并且我们开发了一种技术来评估内含子A中的G-103A。
G79A多态性在患者中的出现频率显著高于对照组（p = 0.012）：至少存在一个A等位基因导致优势比为2.57，95%置信区间为1.23 - 5.34。A-13G多态性在患者中的患病率也呈现出不显著的升高趋势。
PZ基因的G79A多态性被证明是脑静脉血栓形成的一个新的独立危险因素。然而，这些结果必须通过一项包括血浆PZ评估的前瞻性研究来证实。
