Unità di Reumatologia, Arcispedale S. Maria Nuova, Reggio Emilia, Italy.
Clin Exp Rheumatol. 2009 Mar-Apr;27(2 Suppl 53):S23-8.
To investigate potential associations between A-13G and G79A polymorphisms of the protein Z gene and venous thrombosis and other clinical manifestations in Italian patients with Behçet's disease (BD).
176 Italian patients who satisfied the International Study Group criteria for BD and 134 healthy age- and sex- matched blood donors were genotyped for A-13G and G79A polymorphisms of the protein Z gene by molecular methods. 113 and 112 of the 176 BD patients were also genotyped for factor V Leiden and prothrombin gene G20210A polymorphisms. Serological HLA class B51 typing was performed by a standard microlymphocytotoxicity technique. The patients were subgrouped according to the presence or absence of clinical manifestations.
The distribution of allele and genotype frequencies of A-13G and G79A polymorphisms did not differ significantly between BD patients and healthy controls.The frequencies of carriage rates of protein Z G79A and A-13G polymorphisms in BD patients with and without DVT were similar. Similarly, no associations between thrombotic events and the protein Z gene polymorphisms studied were observed in BD patients carrying factor V Leiden or prothrombin gene G20210A mutations. No significant associations were observed between protein Z polymorphisms and the occurrence of specific clinical findings.
No association between DVT and A-13G or G79A polymorphisms of the protein Z gene was found in Italian BD patients. Furthermore, these protein Z polymorphisms in BD do not seem to increase the risk of DVT due to factor V Leiden or prothrombin gene G20210A mutations.
研究蛋白 Z 基因 A-13G 和 G79A 多态性与意大利贝切特病（BD）患者静脉血栓形成及其他临床表现之间的潜在关联。
采用分子生物学方法对 176 例符合国际研究组 BD 诊断标准的意大利患者和 134 名年龄和性别匹配的健康献血者进行蛋白 Z 基因 A-13G 和 G79A 多态性的基因分型。176 例 BD 患者中的 113 例和 112 例还进行了因子 V 莱顿和凝血酶原基因 G20210A 多态性的基因分型。采用标准微量淋巴细胞毒性技术进行血清 HLA 类 B51 分型。根据临床表现的有无对患者进行亚组分组。
BD 患者和健康对照组之间，A-13G 和 G79A 多态性的等位基因和基因型频率分布无显著差异。BD 患者伴或不伴深静脉血栓形成（DVT）的蛋白 Z G79A 和 A-13G 多态性携带率相似。同样，在携带因子 V 莱顿或凝血酶原基因 G20210A 突变的 BD 患者中，也未观察到血栓事件与研究的蛋白 Z 基因多态性之间存在关联。未观察到蛋白 Z 多态性与特定临床表现的发生之间存在显著关联。
在意大利 BD 患者中，未发现 DVT 与蛋白 Z 基因 A-13G 或 G79A 多态性之间存在关联。此外，这些 BD 中的蛋白 Z 多态性似乎不会因因子 V 莱顿或凝血酶原基因 G20210A 突变而增加 DVT 的风险。
