细胞间粘附分子-1基因K469E多态性与缺血性脑卒中的相关性研究

目的探讨细胞间粘附分子-1（ICAM-1）基因K469E多态性与缺血性脑卒中发病风险的相关性。方法收集深圳市两家大型综合性医院的309名缺血性脑卒中新发病例，按年龄相差〈5岁，性别、民族相同的匹配条件选取对照，采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测其基因型。结果病例组ICAM-1基因K469E基因型频率和等位基因频率与对照组比较差异有统计学意义（P〈0．05）。以KK基因型为参照，病例组携带EE、EK基因型是对照组发生脑卒中危险的2．49倍和1．65倍，95％可信区间分别为1．54～4．04，1．27～2．15，而携带至少一个突变基因的个体发生脑卒中的OR值和95％可信区间为1．76（1．30～2．37）。结论ICAM-1基因K469E多态性与缺血性脑卒中发生的易感性有关，E等位基因可能是脑卒中发生的遗传易感标记，纯合突变EE基因型可能是脑卒中的危险因素。

The study on the relationship between ICAM-1K469E gene polymorphism and ischemic stroke

Objective To examine risk of ischemic stroke in relation to ICAM-1K469E gene polymorphism. Methods 309 new patients with ischemic stroke were selected who registered in two general hospitals in Shenzhen. The controls were selected by the same gender and ethnic group, and each pair＇s ages were permitted to differ within 5 years. Its genotype was detected by polymorphism chain reaction and restriction fragment length polymorphism analysis. Results There was significant difference in frequencies of genotype and allele in ICAM-1K469E gene polymorphism between case and control groups （P 〈 0. 05）. OR values （95 % CI） with EE and EK genotypes were 2.49 （ 1.54 - 4.04） and 1.65 （ 1.27-2.15）, respectively. OR value （95 % CI） for subjects with at least one E allele was 1.76 （1.30 - 2.37）. Conclusions The results suggest that ICAM-1 K469E poiymorphism is significantly associated with susceptibility of stroke, E allele and EE homozygote may be risk factors for ischemic stoke.