纤维蛋白原Bβ-249C/T和BβBcl-1G/A基因多态性与其浓度和分子聚合功能的关系

Correlation between Genetic Polymorphism of Fibrinogen Bβ-249C/T and BβBcl-1G/A and Plasma Fibrinogen Concentration and Molecular Polymerized Function

目的研究纤维蛋白原(Fg)Bβ-249C/T和BβBcl-1G/A基因多态性在多种生理和环境因素条件下对血浆Fg浓度和分子聚合功能的影响。方法采用整体抽样方法选取开滦集团职工1507人,样本均空腹抽取静脉血测定血糖等12项生化指标;应用聚合酶链反应-限制性酶切法进行两位点基因多态性分析;采用血浆Fg功能自动监测系统测定血浆Fg浓度和Fg单体聚合反应速率(FMPV)、最大吸光度(Amax)、FMPV/Amax等反映Fg分子活性的参数并进行体检和问卷调查。结果在有脑梗死史组BβBcl-1G/A的A等位基因和AA+GA基因型分布频率高于无脑梗死史人群(P<0.05),Bβ-249C/T的TT+CT组与CC组间Fg浓度、FMPV、Amax、FMPV/Amax差异均无统计学意义(P>0.05),BβBcl-1G/A的AA+GA组Fg浓度及FMPV均高于GG组(P<0.05)。结论 Bβ-249C/T和BβBcl-1G/A位点基因多态性对于Fg分子聚合功能均无影响,Bβcl-1G/A变异基因型人群为脑梗死易感人群,有可能通过影响血浆Fg浓度而使脑梗死发病危险性增加。

Objective To study the impact of Bβ-249C/T and BβBcl-1G/A polymorphisms on fibrinogen（Fg） concentration and molecular polymerized function, under the conditions of multiple physiological and environmental factors. Methods One thousand, five hundred and seven subjects from Kailuan clique were enrolled in this trial by the method of cluster sampling. Venous blood was drawn from all samples with empty stomach to determine 12 biochemistry indexes, including glucose etc; The Bβ-249C/T and BβBcl-1G/A polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism. The parameters illustrated Fg molecular reactivity, such as Fg concentration, fibrin monomer polymerize velocity, absorbance maximum, FMPV/Amax, were checked by blood plasma Fg automatic monitoring system. All samples were examined and conducted to fill in questionnaires by trained interviewers. Results The frequency of A allele and GA ＋ AA genotype of BβBCL- 1 G/A in the group with cerebral infarction was higher than that without cerebral infarction（P〈0.05）. There were no differences of Fg concentration, FMPV, Amax, FMPV/ Amax between TT＋CT and CC genotype of Bβ-249C/T （P〉0.05）. Fg concentration and FMPV in the group of GA＋AA genotype were higher than those of GG genotype of BβBcl-1 G/A（P〈0.05）. Conclusions Both Bβ- 249C/T and BβBcl-1G/A polymorphisms had no impact on Fg molecular polymerized function. Population with variation genotpye of BβBcl-1G/A was the susceptible population with cerebral infarction. BβBcl-1G/A polymorphisms might contribute to increase the risk of cerebral infarction by influencing the concentration of Fg.