缺血性脑卒中患者血管紧张素转换酶与N^5,N^(10)-亚甲基四氢叶酸还原酶基因多态的关联性分析  

Association between Angiotensin-converting Enzyme and Polymorphisms of N^5, N^(10)-Methylenetetrahydrofolic Acid Reductase Gene in Patients with Ischemic Stroke

作　　者：李才明[1] 张成[1] 卢锡林[1] 冯慧宇[1] 曾缨[1] 张鸿炼[2] 邱淑莲[2] 

机构地区：[1]中山大学第一附属医院神经科,广州510080 [2]广东省惠州市中心人民医院神经科,广东惠州516001

出　　处：《中国医学科学院学报》2007年第3期359-363,共5页Acta Academiae Medicinae Sinicae

基　　金：国家自然科学基金(30370510;30170337);广东省卫生厅医学基金(B2002124;B2005134)~~

摘　　要：目的研究缺血性脑卒中(IS)患者血管紧张素转换酶(ACE)与N5,N10-亚甲基四氢叶酸还原酶(MTHFR)基因多态的关联性。方法采用PCR和变性高效液相色谱技术检测454例IS患者和334例对照者的ACE基因I/D多态和MTHFR基因C677T多态的分布。结果病例组的DD、ID、Ⅱ和CC、CT、TT基因型的频率分别为22.5%、43.4%、34.1%和51.8%、40.5%、7.7%,而对照组则为17.4%、45.5%、37.1%和56.9%、38.3%、4.8%;DD型与大动脉粥样硬化型IS(LAA)相关,TT型和T等位基因与LAA和心源性IS相关。TT+DD和TT+ID存在协同作用,增加了患IS的风险。结论DD、TT基因型和T等位基因是IS的易患因子,ACE基因与MTHFR基因在IS的发病过程中存在协同作用。Objective To explore the association between angiotensin-converting enzyme （ACE） and the polymorphisms of N^5, N^10-methylenetetrahydrofolic acid reductase （MTHFR） gene in patients with ischemic stroke （IS）. Methods Totally 454 patients with IS （IS group） and 334 controls （control group） were recruited in our study. Their L/D polymorphisms of ACE gene and C677T polymorphisms of MTHFR gene were detected by PCR and denaturing high performance liquid chromatography. Results The frequencies of DD, ID, Ⅱ and CC, CT, TT genotype in IS group were 22.5%, 43.4%, 34. 1%, and 51.8%, 40. 5%, 7.7%, respectively, and were 17.4%, 45.5% , 37.1% and 56. 9%, 38.3%, 4.8% in the control group, respectively. DD genotype was associated with large-artery atherosclerosis （ LAA ） , and TT genotype and T allele were associated with LAA and cardioembolism. Synergistic effects were found between TT and DD/ID genotypes in the pathogenesis of ischemic stroke. Conclusion DD, TT genotype and T allele are risk factors of IS, and ACE gene and MTHFR gene have synergistic effects in the pathogenesis of IS.

关 键 词：缺血性脑卒中 血管紧张素转换酶 N^5 N^10-亚甲基四氢叶酸还原酶 基因 

分 类 号：R743.3[医药卫生—神经病学与精神病学]