冠心病多位点β纤维蛋白原基因多态性检测的临床意义  

Clinical study of multi-locus β-fibrinogen gene polymorphiGsms

作　　者：吴方[1] 倪培华[2] 璩斌[2] 李莉[2] 董雷鸣[2] 付毅[3] 胡翊群[2] 

机构地区：[1]上海交通大学医学院附属瑞金医院内科,上海200025 [2]上海交通大学医学院附属瑞金医院检验系,上海200025 [3]上海交通大学医学院附属瑞金医院神经内科,上海200025

出　　处：《中国实验诊断学》2007年第9期1192-1197,共6页Chinese Journal of Laboratory Diagnosis

摘　　要：目的研究纤维蛋白原(Fg)Bβ基因多个位点的多态性与血浆水平及冠心病的关系。方法运用聚合酶链反应-限制性片段长度多态性分析技术及核苷酸序列测定鉴定FgBβ基因中7个可能与血栓相关的多态性位点:-β148C/T-、249 C/T3、45 C/T、-455G/A-、854 G/A、1689T/G及Bc1 I G/A;比浊法测定血浆纤维蛋白原水平。结果与正常对照组相比,冠心病组血浆Fg显著升高(P<0.05);有-148C/T-、455G/A、-854G/A或Bc1 I G/A基因多态性变异组,其血浆Fg水平高于无变异组(P<0.05),其中,同时携带A-455、A-854者增高更为显著(P<0.01)。冠心病组A-455、T-148基因型频率(0.334)显著高于高血压组(0.196)和正常对照组(0.195),多态性位点G-455、C-148或A-455、T-148分别紧密连锁,符合率超过97%;Logistic回归分析发现,携带FgB-β148T-、455A基因的高血压患者,患冠心病的危险性是非携带者的1.654倍(P=0.01,95%CI:1.207-2.267)。结论FgBβ基因多态性与血浆Fg水平及缺血性心脏病发生的危险性相关;选择性FgBβ基因多态性位点的检测有助于临床上冠心病易患人群的筛查。Objective To explore the association of multi locusβ-fibrinogen（Fg） gene polymorphisms with plasma fibrinogen levels in coronary heart disease（CHD）. Methods The β-Fg gene - 148 C/T, - 249C/T,345C/T, - 455G/A, - 854G/A, 1689T/G and Bcl I G/A polymorphisms were analyzed by restriction fragment length polymorphism（RFLP） and direct sequence in 182 control, 212 hypertensive eases and 226 CHD eases. Plasma fibrinogen levelswere detemained by turbidimetry. Results The plasma Fg level in CHD was significantly higher than that in control（ P 〈 0.05）.The A^-455,T^- 148 A^-148 or B2 allele were associated with elevated plasma fibrinogen levels in both patients and controls, while the plasma levels of fibrinogen was remarkably increased in patients with A^-455 ,A^-854 allele simultaneity. The A^-455 ,T^-148 （0.334） allehe frequency in CHD group was significantly higher than that in control（0.195） and hypertension group（0. 196）. There were strong linkages of G^-455 C^-148 and A^-455 T^-148, the correspondence was more than 97%. Logistic regression analysis show that relative risk to CHD in hypertensions carry A-allele increase 1.654 times （P = 0.01, 95%cl： 1.207- 2.267）. Conclusion β-fibrinogen gene polymorphisms is related with plasma fibrinogen level and CHD, the detection of multi-locusβ-fibrinogen gene polymorphisms may be useful for prevention of CHD.

关 键 词：冠心病 纤维蛋白原 基因多态性 

分 类 号：R541.4[医药卫生—心血管疾病]