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

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一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。

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

Objective To investigate the relationship between G505A polymorphism in the encoding region of thrombin-activated fibrinolysis inhibitor(TAFI) and cerebral infarction in Chinese Han population. Methods A polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) technique was used to detect G505A polymorphism in the encoding region of TAFI in 130 patients with cerebral infarction and 118 healthy individuals.Results The GG genotype of TAFI G505A 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 G505A polymorphism in the encoding region of TAFI was an independent risk factor for cerebral infarction(OR = 2.660,95%CI 1.330 - 5.317, P =0.006).Conclusion The TAFI G505A polymorphism may be one of the risk factors for cerebral infarction.