Department of Neurology, Sheng- Jing Hospital of China Medical University, Shenyang, China.
J Neurosci Res. 2012 Sep;90(9):1782-7. doi: 10.1002/jnr.23075. Epub 2012 May 15.
The E-selectin gene, a member of the selectin superfamily of adhesion molecules, plays an important role in the pathogenesis of thrombovascular diseases. The present study was designed to investigate the potential relationship between E-selectin gene polymorphisms and ischemic stroke in a Chinese Han population. Three hundred fourteen ischemic stroke patients and 389 unrelated healthy controls were recruited for the study. Three single-nucleotide polymorphisms (SNPs)-rs1805193(G98T), rs5361(A561C), and rs5355(C1839T)-in the exon region of the E-selectin gene, were genotyped using a Multiplex SNaPshot sequencing assay. The data showed that the genotype and allele frequencies of G98T and C1839T SNP were similar in both ischemic stroke patients and the controls. In contrast, the frequency of both the AC genotype and the C allele of A561C was significantly higher in ischemic stroke patients than in healthy controls (P = 0.001, P < 0.001, respectively). After adjusting for other risk factors (such as hypertension, diabetes, tobacco smoking, and alcohol consumption), the E-selectin gene AC genotype and C allele of A561C were still associated with a risk of ischemic stroke (odds ratio [OR] = 2.73, 95% confidence interval (CI): 1.29-5.76, P = 0.008; OR = 2.80, 95% CI: 1.58-4.94, P < 0.001, respectively). Our current study demonstrates that the E-selectin SNP A561C is associated with increased risk for the development of ischemic stroke in this subset of the Han Chinese population.
E-选择素基因是选择素超家族黏附分子的一个成员，在血栓血管疾病的发病机制中发挥重要作用。本研究旨在探讨 E-选择素基因多态性与汉族人群缺血性卒中的潜在关系。本研究纳入了 314 例缺血性卒中患者和 389 名无关的健康对照者。采用多重 SNaPshot 测序分析方法检测 E-选择素基因外显子区域的 3 个单核苷酸多态性（SNP）：rs1805193（G98T）、rs5361（A561C）和 rs5355（C1839T）。结果显示，G98T 和 C1839T SNP 的基因型和等位基因频率在缺血性卒中患者和对照组之间相似。相比之下，A561C 的 AC 基因型和 C 等位基因在缺血性卒中患者中的频率明显高于健康对照组（P = 0.001，P < 0.001）。在校正其他危险因素（如高血压、糖尿病、吸烟和饮酒）后，E-选择素基因 AC 基因型和 A561C 的 C 等位基因仍与缺血性卒中的发病风险相关（比值比[OR] = 2.73，95%置信区间[CI]：1.29-5.76，P = 0.008；OR = 2.80，95% CI：1.58-4.94，P < 0.001）。本研究表明，E-选择素 SNP A561C 与汉族人群缺血性卒中的发病风险增加相关。
