白细胞介素-1受体拮抗剂基因多态性与缺血性卒中的关系

The relationship between gene polymorphism of interleukin-1 receptor antagonist and ischemic stroke

目的探讨在中国人群中,白细胞介素-1受体拮抗剂基因内含子2的变数串联重复(VNTR)多态性与缺血性卒中的关系。方法共收集了112例缺血性卒中患者(36例短暂性脑缺血发作,76例脑梗死)和105例年龄与性别相匹配的正常人或其他住院病人作为对照,通过聚合酶链反应(PCR)和琼脂糖凝胶电泳来确定其基因型。结果缺血性卒中患者A2等位基因频率要低于对照组(分别为0.049和0.105,χ2=4.78,P=0.029),A1/A2+A2/A2基因型的频率也比对照组低(分别为0.098和0.200,χ2=4.47,P=0.035)。缺血性卒中亚组间的分析发现,短暂性脑缺血发作组与对照组的基因型及等位基因频率没有差别,而脑梗死组与对照组则有显著差别。脑梗死组A2等位基因频率明显低于对照组(分别为0.026和0.105,P=0.004,OR=0.23,95%CI为0.08￣0.69)。结论白细胞介素-1受体拮抗剂内含子2基因VNTR多态性与缺血性卒中有关,其A2等位基因对缺血性卒中特别是脑梗死可能有保护作用。

Objective To investigate the relationship between a variable number of tandem repeats （VNTR） polymorphism in intron 2 of intedeukin-1 receptor antagonist gene and ischemic stroke. Methods 112 cases ofischemic stroke （36 TIA and 76 cerebral infarction） and 105 age- and sex-matched controls were recruited.The polymorphism was determined by polymerase chain reaction （PCR） and agarose gel electrophoresis. Results The frequency of the IL-1Ra A2 allele was significantly lower in ischemic stroke than in controls （0.049 and 0.105, respectively;x^2=4.78, P=0.029）. The A1/A2＋A2/A2 genotype was also lower in ischemic stroke （0.098 and 0.200, respectively;x^2=4.47,P=0.035）. Subgroup analysis indicated that the A2 allele frequencies in cerebral infarction group were significantly different from those of controls （0.026 vs 0. 105, P=0.004, OR=0.23, 95% CI 0.08-0.69）, but no such relation was found between TIA and controls. Conclusion IL-1 Ra gene VNTR polymorphism is involved in ischemic stroke, the A2 allele may be a protective factor to ischemic stroke, especially cerebral infarction.