血浆纤溶酶原激活物抑制剂-1基因启动子区4G/5G多态性与脑血管疾病的关系  

Association between 4G/5G genetic polymorphisms in the promotor region of the plasminogen activator Inhibitor-1 and stroke

作　　者：唐显毕[1] 刘双喜[1] 耿德勤[2] 周军[1] 

机构地区：[1]湖南省南华大学附属怀化市第一人民医院神经内科,418000 [2]徐州医学院

出　　处：《神经疾病与精神卫生》2008年第1期33-37,共5页Journal of Neuroscience and Mental Health

摘　　要：目的探讨血浆纤溶酶原激活物抑制剂-1基因启动子区4G/5G多态性与脑血管疾病之间的关系。方法应用PCR技术和琼脂糖电泳对30例脑出血患者、90例脑梗死患者(其中腔隙性脑梗死30例,小面积脑梗死30例,大面积脑梗死30例)进行了API-1基因启动子4G/5G多态性的检测和分析,并与30例非脑血管疾病者对照比较。结果对照组、脑出血组、脑梗死组基因型频率及等位基因频率分布比较均有统计学差异(P<0.05)。对照组与脑出血组间基因型频率及等位基因频率比较均无统计学差异(P>0.05)。对照组与脑梗死组间基因型频率及等位基因频率比较均有统计学差异(P<0.05),脑梗死组4G/4G基因型频率(44.4%)较对照组(20%)高;脑梗死组4G等位基因频率(63.3%)较对照组(38.8%)高,比较均有统计学差异(P<0.05)。脑梗死组各亚型基因型频率及等位基因频率比较均无统计学差异(P>0.05)。性别在各组不同基因型中分布:对照组及脑出血组性别在不同基因型分布比较无统计学差异(P>0.05)。脑梗死组性别在不同基因型分布比较有统计学差异(P<0.05),4G/4G基因型中男性占25%;女性占65%,比较有统计学差异(P<0.05)。腔隙性脑梗死组及小面积脑梗死组性别在不同基因型中分布比较均无统计学差异(P>0.05)。大面积脑梗死组性别在不同基因型中分布比较有统计学差异(P<0.05),4G/4G基因型男性占21.4%;女性占78.6%,比较有统计学差异(P<0.05)。结论PAI-1基因启动子区4G/5G多态性在怀化市正常人群中大致分布为:4G/4G占20%;4G/5G占63.3%;5G/5G占16.7%。PAI-1基因启动子区4G/5G多态性与脑出血无关。PAI-1基因启动子区4G/5G多态性与缺血性脑卒中有关,4G/4G基因型可能是缺血性脑卒中的一个独立危险因素,尤其可能与女性大面积脑梗死密切相关。PAI-1基因启动子区4G/5G多态性与缺血性脑卒中的梗死面积无关。Objective To explore the relationship between genetic polymorphisms of type Ⅰ plasminogen activator inhibitor （PAI- 1） and stroke. Methods Peripheral blood leukocytes samples were collected from 30 normal controls selected from Huaihua population and 30 cases with cerebral hemorrhage and 90 ischemic stroke cases that include 30 lacunar infarct cases, 30 large infarct cases and 30 small infarct cases. All groups matched in sex, age, blood pressure and blood sugar. PAI-1 gene 4G/ 5G polymorphisms were determined by polymerase chain reaction （PCR）. Results The frequency of the genotype and the allele were difference among the control group and the cerebral hemorrhage group and the ischemic stroke group （P 〈0.05）. The frequency of the genotype and the allele were no difference between the control group and the cerebral hemorrhage group （P 〉 0.05）. The frequency of the 4G/4G genotype in the ischemic stroke group （44.4%） was higher than that in the control group （20%, P 0.05）. The frequency of the 4G allele in the ischemic stroke group （63.3%） was higher than that in the control group （38.8%, P % 0.05）. The sex was no difference in the frequency of the genotype in the control group （P 〉 0.05）, also in the cerebral hemorrhage group （P 〉 0.05）. In the 4G/4G genotype of the ischemic stroke group, male was 25% female was 65 % （P 〈 0.05）. The sex was no difference in the frequency of the genotype in the lacunar infarct group （P 〉 0. 05）, also in the small infarct group （P 〉 0. 05）. In the 4G/4G genotype of the large infarct group, male was 21.4% female was 78.6% （P 〈 0.05）. Conclusions There was no correlation between PAI-1 promoter region gene polymorphism and cerebral hemorrhage. PAI-1 promotor region gene polymorphism maybe a susceptible to ischemic stroke, and 4G allele homozygous genotype may be the major risk factor for ischemic stroke, it may be especially an independent risk factor of ischemic stroke in female patients. There was no correlatio

关 键 词：PAI-1 基因 多态性 脑梗死 

分 类 号：R743.3[医药卫生—神经病学与精神病学]