摘要
目的 探讨血管紧张素 1转换酶 (ACE 1)基因和N5,N10 亚甲基四氢叶酸还原酶(MTHFR)基因多态性与缺血性脑卒中 (IS)的关系。方法 运用多聚酶链反应 限制性内切酶片段长度多态性 (PCR RFLP)技术检测 143例IS及 15 4例对照组的ACE 1和MTHFR基因多态性。结果 IS患者ACE 1基因II、ID、DD基因型频率分别为 37 1%、48 3%、14 7% ,对照组II、ID、DD基因型频率分别为 44 2 %、37 7%、18 2 % ,IS组患者的ID基因型相对危险性为对照组的 1 2倍 ;IS患者的MTHFR基因CC、CT、TT基因型频率分别为 40 5 %、45 5 %、14 0 % ,对照组的CC、CT、TT基因型频率分别为6 3 0 %、31 8%、5 2 % ,2组的TT基因型及T等位基因频率比较差异有显著性意义 ;ACE 1基因多态性与MTHFR基因多态性之间存在协同作用。结论 MTHFR基因TT、CT型可能是IS的危险因子 ,CC型可能是IS的保护因子 ,ACE
Objective To study the relationships between polymorphisms of angiotensin-converting enzyme 1 (ACE-1) gene and N 5,N 10-methylene-tetra-hydrofolic acid reductase (MTHFR) gene and ischemic stroke (IS). Methods The polymorphisms of ACE-1 and MTHFR genes in the peripheral white blood cells of 143 patients with IS and 154 controls were analyzed using PCR- RFLP. Results The frequencies of II, ID, and DD genotypes of ACE-1 gene were 37.1%, 48.3%, and 14.7% respectively in IS patients, and were 44.2%, 37.7%, and 18.2% respectively in the controls. The relative risk of stroke in IS group was 1.2 times that in the control group. The frequencies of TT, CT, and CC genotypes of MTHFR gene were 14.0%; 45.5%, and 40.5% respectively in the IS group, and 5.2%, 31.8%, and 63.0% respectively in the control group. The frequency of TT genotype was 5.2% in the control group and 1.4% in the IS group (P<0.05). The frequency of T allele was 21.10% in the control group and 36.65% in the IS group (P<0.01). The individuals with TT+ID or CT+ID were more susceptible to IS. The individuals with TT+ID were 4.3 times susceptible to IS than the controls, and the individuals with CT+ID were 1.63 times susceptible to IS than the controls. However, the individuals with CC+ID were less susceptable to IS in comparison to the controls (P=0.003). Conclusion TT and CT genotypes of MTHFR gene may be the risk factors of IS. There is a co-effective action between polymorphisms of ACE-1 gene and those of MTHFR gene in the pathogenesis of IS. CC genotype may have a protective effect against IS.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2002年第15期1046-1049,共4页
National Medical Journal of China
基金
国家自然科学基金资助项目 ( 39870 80 4
30 170 337)
广东省自然科学基金资助项目 ( 970 0 6 1)
卫生部临床重点项目基金资助项目 ( 970 40 0 2 9
2 0 0 132 1)
CMB基金资助项目 ( 98 6 6 7)
教育部骨干教师基金资助项目 ( 0 82 0 0 4)
关键词
血管紧张素1
脑缺血
遗传易感性
Angiotensin 1
Cerebral ishemia
Genetic predisposition to disease
