血浆纤维蛋白原Bβ链基因多态性与血浆Fg功能表达的相关性研究

Association analysis of fibrinogen Bβ chain gene polymorphisms with its functional expression

目的分析纤维蛋白原-1420G/A、-993C/T、BsmAIG/C位点基因多态性的分布特征及其对血浆Fg浓度和分子活性等功能表达的影响。方法采用整体抽样的方法选取开滦集团职工1248人,均抽取清晨空腹静脉血测定生化指标及Fg浓度、Fg单体聚合反应速率(FMPV)等指标,并检测基因型。结果 Fg浓度、FMPV、Amax、FMPV/Ama在3位点的野生型与变异型组间无差异(P>0.05);男性组FMPV/Amax低于女性组(P<0.05);高UA组中-1420的GA+AA基因型、-993的CT+TT基因型、Bs-mAI的GC+CC基因型分布频率均高于正常组(P<0.01);在无高血压病史人群中-1420 GA+AA组的FMPV/Amax高于GG组(P<0.05)。结论 -1420和-993位点与BsmAI位点之间具有特殊的链锁不平衡关系,这3个SNPs对于血浆Fg浓度和分子功能表达没有直接的影响;但它们可通过引发血UA等特定因子的变化,而影响血浆Fg分子功能的表达。

This atticle aims to study the distribution characteristics of fibrinogen-1420G/A,-993C/T and BsmAIG/C polymorphisms and the influence on functional expression of plasma fibrinogen concentration and molecular reactivity.The sample consisted of 1248 subjects from Kailuan Group;the biochemistry indicators,Fg concentration and FMPV of theses subjects were measured,and three sites were genotyped.Fg concentration,FMPV,Amax and FMPV/Ama in population with wild genotype were not significant than those with mutation genotype（P 0.05）.FMPV/Amax in male group was lower than those in female group（P 0.05）.The distributed frequencies of-1420GA＋AA genotype,-993CT＋T T genotype and BsmAIGC＋CC in hyperuricaemia group were significantly higher than those in normal group（P 0.01）.In non-hypertension population,FMPV/Amax in-1420GA＋AA genotype was higher than those in GG genotype（P 0.05）.Special linkage disequilibrium among-1420,-993 and BsmAI was observed.The three SNPs did not directly influence the expression of plasma fibrinogen and molecular function.But their role on specific blood factors such as UA may influence the molecular functional expression of plasma Fg.