Esen Fatma Inci, Hancer Veysel Sabri, Küçükkaya Reyhan Diz, Yeşilot Nilüfer, Coban Oğuzhan, Bahar Sara, Tuncay Rezzan
Edip Aktin Stroke Unit, Istanbul Medical Faculty, Istanbul University, Turkey.
Neurol Res. 2012 Jan;34(1):68-71. doi: 10.1179/1743132811Y.0000000061.
Recently, a T/C polymorphism in the Kozak sequence of glycoprotein Ib-alpha (GPIb-alpha) gene at position -5 from the initiator ATG codons, has been identified. The presence of -5C allele increases the surface expression of GPIb-IX-V complex in a gene dosage-dependent manner. It has been suggested that higher receptor levels might increase the adhesiveness of the platelets and confer risk for thrombosis. In this study, we aimed to investigate the association between GPIb-alpha Kozak polymorphism and ischemic stroke.
We prospectively and consecutively recruited 231 patients (118 women and 113 men; mean age: 65 ± 14.2 years) with first ever ischemic stroke admitted to Istanbul Faculty of Medicine Edip Aktin Stroke Unit between April 2007 and June 2009. Demographic features, risk factors, clinical, and etiological subtypes were analyzed. As the control group, 220 unrelated healthy subjects were included.
We found that 156 patients had TT, 70 patients had TC, and 5 patients had CC genotype. At least one copy of C allele carriers were overrepresented in the ischemic stroke group (32.5%) compared with controls (23%) [odds ratio (OR): 0.61; 95% confidence interval (CI): 0.40-0.93; P = 0.03]. Among etiologic subtypes, the distribution of C allele carriers was the highest in patients with undetermined etiology (45%) and it was significantly higher than controls (OR: 0.36; 95% CI: 0.20-0.65; P = 0.0008). In other subtypes, there was no association with Kozak -5C allele.
In conclusion, these encouraging preliminary results show that GPIb-alpha T/C polymorphism might increase the risk of ischemic stroke, especially in those with undetermined etiology.
最近，已在糖蛋白Ib-α（GPIb-α）基因起始ATG密码子上游-5位的科扎克序列中鉴定出一种T/C多态性。-5C等位基因的存在以基因剂量依赖的方式增加GPIb-IX-V复合物的表面表达。有人提出，较高的受体水平可能会增加血小板的黏附性并带来血栓形成风险。在本研究中，我们旨在调查GPIb-α科扎克多态性与缺血性中风之间的关联。
我们前瞻性且连续招募了2007年4月至2009年6月期间入住伊斯坦布尔医学院埃迪普·阿克廷中风单元的231例首次发生缺血性中风的患者（118名女性和113名男性；平均年龄：65±14.2岁）。分析了人口统计学特征、危险因素、临床和病因亚型。作为对照组，纳入了220名无关的健康受试者。
我们发现156例患者具有TT基因型，70例患者具有TC基因型，5例患者具有CC基因型。与对照组（23%）相比，缺血性中风组中至少携带一份C等位基因的携带者比例过高（32.5%）[比值比（OR）：0.61；95%置信区间（CI）：0.40-0.93；P = 0.03]。在病因亚型中，病因未明患者中C等位基因携带者的分布最高（45%），且显著高于对照组（OR：0.36；95%CI：0.20-0.65；P = 0.0008）。在其他亚型中，与科扎克-5C等位基因无关联。
总之，这些令人鼓舞的初步结果表明，GPIb-α T/C多态性可能会增加缺血性中风的风险，尤其是在病因未明的患者中。
