α-纤维蛋白原基因Thr312Ala多态性与脑血栓形成的关联性研究

Study of the association between cerebral thrombosis and the Thr312Ala polymorphism of fibrinogen gene

目的探讨 α-纤维蛋白原基因Thr312Ala多态性及其与脑血栓形成之间是否存在关联性。方法 153例脑血栓形成患者(脑梗死组)和年龄、性别相匹配的158例内科住院患者及健康体检者(对照组),采用聚合酶链反应-限制性片断长度多态性检测Thr312Ala多态性,用Stadtmanl改良法和磁珠法测定其血浆胆固醇及纤维蛋白原(FIB)的水平,并分析基因多态性、血浆胆固醇水平、FIB水平和脑血栓形成之间的关联性。结果 1等位基因和1/1基因型在脑梗死组中的分布水平明显低于对照组;1等位基因与脑梗死有显著的负相关;2等位基因与脑梗死有显著的正相关;脑梗死组的胆固醇和FIB水平均显著高于对照组。Ihr312Ala基因型分层,1/1型和1/2型的脑梗死患者血浆胆固醇水平显著高于对照组;2/2型脑梗死患者血浆FIB水平显著高于对照组。结论α-纤维蛋白原基因Thr312Ala多态位点的1等位基因可能对抑制脑梗死的形成起到积极作用,这种作用可能通过影响血浆FIB水平的途径来实现的。2等位基因关联于脑血栓形成。

Objective To investigate the Thr312Ala polymorphism of the fibrinogen gene in Chinese Han population , and its relation to cerebral thrombosis. Methods PCR-RFLP was used to examine thr312Ala polymorphism in 153 patient with cerebral thrombosis and 158 controls. Z test was used to analyze the distributions of the polymorphism in different groups, and t test was performed to compare the mean plasma cholesterol and FIB levels among different genotypes. Results Allele 1 and genotype 1/1 were significantly lower in cerebral infarction group than in control. Allele 1 was negatively correlated with cerebral infarction. In cerebral infarction group, both plasma cholesterol and FIB levels were significantly higher than those in control group. The plasma cholesterol levels in the cerebral infarction subgroups with 1/1 and 1/2 genotypes were significantly higher than that in control, and the mean plasma FIB level in the cerebral infarction subgroup with 2/2 genotype was significantly higher than that in control. Conclusion The results suggest that in Chinese Han population the allele 1 of the Thr312Ala polymorphism of fibrinogen gene may protect a person against cerebral infarction by the influence on plasma FIB level,and the allele 2 of the Thr312Ala of fibrinogen gene is associa-tied with cerebral thrombosis.