摘要
目的探讨肾素-血管紧张素转换酶基因(ACE)插入/缺失多态性(I/D)、载脂蛋白E基因(APOE)多态性、纤维蛋白原(Fg)β基因148C/T及亚甲基四氢叶酸还原酶基因(MTHFR)677C/T多态性与脑梗死易感性之间的关系。方法选取按年龄、性别、有无高血压及糖尿病病史相匹配的脑梗死病例组及非心脑血管病对照组各100例,根据TOAST分型法将100例脑梗死患者分成大动脉粥样梗死组(n=31)及小动脉闭塞组(n=69),并调查其危险因素。利用聚合酶链反应-变性高效液相色谱法(PCR-DHPLC)确定四种多态性的基因型。结果在大动脉粥样硬化组及相应对照组Fgβ148CT/TT基因型分布差异有统计学意义(OR9.757,95%CI1.168～81.467,P=0.035);ACEID/DD基因型,MTHFRCT/TT基因型和Fgβ CT/TT基因型之间有协同作用(OR3.907,95%CI1.160～13.162,P=0.028);吸烟的Fgβ CT/TT或APOEε4ε3基因型携带者在病例组的分布明显高于对照组(OR4.854,95%CI1.817～12.970,P=0.002。OR7.792,95%CI1.517～40.010,P=0.014);饮酒与Fgβ CT/TT基因型之间亦有明确的协同作用(OR:22.647,95%CI2.952～173.756,P=0.003)。结论Fgβ 148CT/TT基因型可能是大动脉粥样硬化性脑梗死的危险因素;同时携带ACEID/DD基因型、MTHFRCT/TT基因型和Fgβ CT/TT基因型,携带Fgβ CT/TT基因型同时吸烟或饮酒,携带APOEε4ε3基因型同时吸烟均增加脑梗死的易感性。
Objective To investigate separate and synergistic effects of the specific genetic polymorphisms on ischemic stroke and their interaction with environment risk factors. Methods The angiotensin converting enzyme(ACE) gene I/D polymorphism, apolipoprotein E (ApoE) gene polymorphism, methylenetetrahydrofolate reductase (MTHFR) gene 677C/T polymorphism and beta fibrinogen (Fg β ) gene 148C/T polymorphism were studied in 100 patients and 100 matched controls. Genotypes for those polymorphisms were documented by polymerase chain reaction (PCR) amplification and denaturing high performance liquid chromatography (DHPLC) analysis. Results The association of single genotype and ischemic stroke was only found for Fg β CT/TT genotype in large-artery subtype ( OR 9.757,95% CI,1.168-81.467,P=0.035). Co-occurrence of Fg β CT/TT, MTHFR CT/TT and ACE ID/DD genotypes represented a significantly increased risk for the development of ischemic stroke( OR 3.907, 95% CI,1.160-13.162,P=0.028). Individuals with genotype Fg β CT/TT or APOEε4ε3 and smoking, with genotype Fg β CT/TT and drinking status occurred more frequently in cases than in control group. Conclusion Our results indicate that there are synergistic effects in certain unfavorable genotype combination, in certain genotype combined with environment risk factors for the development of ischemic stroke and that may be helpful in the prevention strategy of ischemic stroke.
出处
《中国卒中杂志》
2006年第12期846-851,共6页
Chinese Journal of Stroke
基金
卫生部科学研究基金资助项目(WKJ-2003-01-12)
