凝血酶活化纤维蛋白溶解抑制物基因编码区C1040T及G753A的多态性与脑梗死的相关性  

Correlation between C1040T and G753A polymorphisms in the gene encoding region of thrombinactivatable fibrinolysis inhibitor and cerebral infarction

作　　者：何芳梅[1,2] 潘剑罡[1] 赵西耀[3] 袁华[4] 牟翔[4] 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]西安第四军医大学西京医院物理医学与康复科,710032 [3]浙江省建德市第一人民医院神经内科 [4]第四军医大学西京医院物理医学与康复科

出　　处：《中国脑血管病杂志》2014年第7期347-353,共7页Chinese Journal of Cerebrovascular Diseases

摘　　要：目的探讨中国汉族脑梗死患者凝血酶活化纤维蛋白溶解抑制物(TAFI)基因编码区C1040T及G753A单核苷酸多态性与脑梗死的相关性。方法回顾性分析采用聚合酶链反应-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名同期行正常体检者(对照组)的TAFI基因编码区C1040T及G753A的多态性。结果脑梗死组TAFI基因G753A多态性的GG型频率41.5%(54例),A等位基因携带者频率58.5%(76例);而对照组分别为GG型频率44.9%(53例),A等位基因携带者频率55.1%(65例)。TAFI基因G753A多态性的GG型及A等位基因携带者两组频率差异无统计学意义(χ2=0.288,P=0.592)。在脑梗死组,C1040T多态性的CC型占50.0%(65例),T等位基因携带者占50.0%(65例);而对照组分别为CC型51.7%(61例),T等位基因携带者占48.3%(57例)。C1040T多态性的CC型及T等位基因携带者两组差异无统计学意义(χ2=0.071,P=0.790)。多因素Logistic回归分析显示,TAFI基因编码区G753A单核苷酸多态性(GA或AA基因型)及C1040T单核苷酸多态性(CT或TT基因型)不是脑梗死发病的独立危险因素。结论 TAFI基因编码区C1040T及G753A的多态性与脑梗死之间无显著相关性,不是脑梗死发病的独立危险因素。Objective To investigate the correlation between G753A and C1040T polymorphisms in the gene encoding region of thrombin-activatable fibrinolysis inhibitor （TAFI ）and cerebral infarction in patients with cerebral infarction in Chinese Han population. Methods C1040T and G753A poly-morphisms in the TAFI gene encoding region in 130 patients with cerebral infarction and 118 healthy subjects （control group）were analyzed retrospectively and they were detected by using polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP ）. Results The GG genotyping of the TAFI gene G753A polymorphism in the cerebral group was 41. 5%（n=54）and the A allele carriers were 58. 5%（n=76）,while those in the control group were 44. 9%（n=53）and 55. 1%（n=65）respectively. There were no significant differences in the GG genotyping of TAFI gene G753A polymorphism and the A allele carriers between the cerebral infarction group and the control group （χ2 =0. 288,P=0. 592）. In the cerebral infarction group,the CC genotyping of C1040T polymorphism was 50. 0%（n=65）and T allele carriers were 50. 0%（n=65）,while those in the control group were 51. 7%（n=61）and 48. 3%（n=57）respectively. There were no significant differences in the GG genotyping of C1040T polymorphism and the T allele carriers between the two groups （χ2 =0.071,P =0.790 ）. Multivariate logistic regression analysis showed that G753A and C1040T single nucleotide polymorphisms （GA or AA genotype）in the TAFI gene encoding region were not the independent risk factors for cerebral infarction. Conclusion There are no significant differences in the correlation between the G753A and C1040T polymorphisms in the TAFI gene encoding region and cerebral infarction. They are not the independent risk factors for the onset of cerebral infarction.

关 键 词：脑梗死 基因 凝血酶活化纤维蛋白溶解抑制物 单核苷酸多态性 

分 类 号：R743.33[医药卫生—神经病学与精神病学]