纤维蛋白原Bβ多态基因FGB-455G/A多态性与动脉粥样硬化性脑梗塞的关系

目的　探讨纤维蛋白原 (fibrinogen ,FGB )Bβ多态基因FGB 45 5G/A多态性在中国汉族人群中的分布及其与动脉粥样硬化性脑梗塞 (atheroscleroticcerebralinfarction ,ACI)的关系。方法　应用聚合酶链反应和限制性内切酶片段长度多态性技术检测了 13 2例ACI患者和 14 8名年龄、性别相匹配的正常对照者的Bβ基因FGB -4 5 5G/A多态性 ,比浊法测定血浆纤维蛋白原水平。 结果　血浆纤维蛋白原水平在ACI组显著高于正常对照组 (P <0 .0 0 1)。各组内A等位基因携带者血浆纤维蛋白原水平显著高于GG基因型者 ,且更易受吸烟等环境因素影响。Bβ基因FGB -4 5 5G/A多态性分布在患病组和对照组均符合Hardy Weinberg平衡定律。A等位基因频率在ACI组 ( 0 .2 5 8)显著高于正常对照组 ( 0 .15 2 ) (P <0 0 5 )。Logistic回归分析发现 ,存在此突变位点者发生ACI的危险提高了 65 .3 %。结论　Bβ基因FGB -4 5 5G/A多态性中的A等位基因可能是中国人缺血性脑血管疾病的遗传易感标志之一。

Relationship between fibrinogen Bβ gene FGB -455G/A polymorphism and atherosclerotic cerebral infarction

OBJECTIVE: To explore the distribution of fibrinogen (FGB) B beta polymorphism in Chinese Han population and the association of the polymorphisms with the occurrence of atherosclerotic cerebral infarction (ACI). METHODS: The B beta gene FGB -455G/A polymorphism was identified by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) in 132 patients with ACI and 148 healthy controls matching on age and sex. Turbidimetric assays were performed to measure the plasma fibrinogen levels of all cases. RESULTS: The plasma fibrinogen level in ACI group (3.42+/-0.52 g/L), was significantly higher than that in the controls (2.96+/-0.42g/L), P<0.001. The A allele was associated with the elevated plasma fibrinogen levels in both patients and controls. Among the A allele carriers, smokers had significantly higher plasma fibrinogen levels than did the non-smokers (P<0.05). The distribution of B beta gene FGB -455G/A polymorphism was in accordance with the Hardy-Weinberg equilibrium (P>0.05). The A allelic frequency in ACI group (0.258) was significantly higher than that in the control group (0.152) (P<0.05). Logistic regression analysis showed that the cases carrying A allele (GA+AA genotype) had 1.653 times the risk of ACI. CONCLUSION: The study demonstrates that A allele of the B beta gene FGB -455G/A polymorphism may be a susceptible predictor of the occurrence of ACI, particularly in smokers.