凝血酶活化纤维蛋白溶解抑制物基因编码区G505A单核苷酸多态性与脑梗死的关系  

Relationship between G505A polymorphism in the encoding region of thrombin-activated fibrinolysis inhibitor and cerebral infarction

作　　者：何芳梅[1,2] 李亚军[2] 张蓓[2] 潘剑罡[1] 陈煜森[1] 

机构地区：[1]广东医学院附属医院神经内科,湛江524023 [2]西安医学院附属医院神经内科,710077

出　　处：《中国脑血管病杂志》2012年第1期32-36,共5页Chinese Journal of Cerebrovascular Diseases

基　　金：教育部留学回国人员科研启动基金(教外司留[2005]546号)

摘　　要：目的探讨中国汉族人群中凝血酶活化纤维蛋白溶解抑制物(TAFI)基因编码区G505A单核苷酸多态性与脑梗死的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,检测130例脑梗死患者和118例同期体检者的TAFI基因编码区G505A的多态性。结果脑梗死组TAFI基因G505A的GG基因型占35.4%(46/130),GA+AA基因型占64.6%(84/130);而对照组分别为49.2%(58/118)、50.8%(60/118),差异有统计学意义(P=0.028)。脑梗死组G、A等位基因频率分别为60.4%(157/260)、39.6%(103/260),对照组分别为69.9%(165/236),30.1%(71/236),差异有统计学意义(P=0.026)。多因素LogistiC回归分析显示,TAFI基因编码区G505A单核苷酸多态性(GA或AA基因型)是脑梗死发病的独立危险因素(OR=2.660,95%CI:1.330～5.317,P=0.006)。结论 TAFI基因G505A的多态性可能是脑梗死的危险因素之一。Objective To investigate the relationship between GS05A polymorphism in the encoding region of thrombin-aetivated fibrinolysis inhibitor （TAFI） and cerebral infarction in Chinese Han popula- tion. Methods A polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） technique was used to detect GS05A polymorphism in the encoding region of TAFI in 130 patients with cer- ebral infarction and 118 healthy individuals. Results The GG genotype of TAFI GS05A accounted for 35.4% （46/130） and GA or AA genotype accounted for 64.6% （84/130） in the cerebral infarction group; and they were 49.2% （58/118） and 50.8% （60/118） respectively in the control group. The difference was statistically significant （ P = 0. 028 ）. The G and A allele frequencies were 60.4% （ 157/ 260） and 39.6% （103/260） respectively in the cerebral infarction group, and they were 69.9% （ 165/ 236） and 30.1% （71/236） respectively in the control group. The difference was statistically significant （P =0. 026）. Multivariate logistic regression analysis showed that GS05A polymorphism in the encoding region of TAFI was an independent risk factor for cerebral infarction （ OR = 2. 660,95% C1 1. 330 - 5. 317, P =0.006 ）. Conclusion The TAFI GS05A polymorphism may be one of the risk factors for cerebral infarction.

关 键 词：脑梗死 凝血酶活化纤维蛋白溶解抑制物 基因 多态性 单核苷酸 

分 类 号：R743[医药卫生—神经病学与精神病学]