TAFI基因编码区C291T的多态性与脑梗死的相关性研究

目的 探讨中国汉族人群中凝血酶激活的纤溶抑制物(TAH)基因编码区C291T的多态性与脑梗死的相关性.方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测173例脑梗死患者(脑梗死组)和158例健康人(对照组)的TAFI基因编码区C291T多态性的基因型.结果 脑梗死组TAFI基因C291T多态性的CC基因型为53.2%(92/173),T等位基因携带者为46.8%(81/173);而对照组CC基因型为68.4%(108/158),T等位基因携带者为31.6%(50/158),两组之间的差异有统计学意义(χ2=7.952,P=0.005).脑梗死组C、T等位基因频率分别为70.8%(245/346),29.2%(101/346);对照组C、T等位基因频率分别为81.9%(259/316),18.1%(57/316),两组之间的差异有统计学意义(χ2=11.306,P=0.001).结论 TAFI基因编码区C291T的多态性与脑梗死呈显著性相关.

Association of C291T polymorphism in the coding region of thrombinactivatable fibrinolysis inhibitor gene with cerebral infarction

Objective To evaluate the association between C291T polymorphism in the coding region of thrombin activatable fibrinolysis inhibitor (TAFI) and cerebral infarction in Chinese Han population. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine C291T polymorphism in the encoding region of TAFI gene in 173 patients with cerebral infarction and 158 healthy control subjects. Results The frequencies of CC genetype and T alleles carriers ofC291T gene were 53.2% (92/173) and 46.8% (81/173) in the case group and 68.4% (108/158) and 31.6% (50/158) in the control group, respectively. Chi-square test showed significant difference in the frequencies of these genotypes between the two groups (P<0.05). The frequencies of C and T alleles were 70.8% (245/346) and 29.2% (101/346) in the case group, and 81.9% (259/316) and18.1% (57/316) in the control group, respectively, also showing significant differences between the two groups (P<0.05). Conclusion C291T polymorphism in the coding region of TAFI gene is significantly associated with cerebral infarction.