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PLAU基因近端启动子区变异与阿尔茨海默病的关系 被引量：1

Association between the promoter polymorphisms of PLAU gene and Alzheimer’s disease
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摘要 目的研究尿激酶型纤溶酶原激活剂(urokinase-type plasminogen activator gene,PLAU)基因近端启动子区变异与散发性阿尔茨海默病发病的相关性。方法根据NINCDS-ADRDA年标准收集98例AD患者,以101例正常人作为对照。采用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)结合直接测序的方法,筛查PLAU基因启动子区多态性位点,并对所有受试者进行PLAU启动子区多态位点分型,采用病例-对照相关性研究方法 ,研究其与AD发病的关系。用SPSS11.5统计软件包进行等位基因和基因型分布的比较及它们与疾病的关联分析。结果中国人群中的PLAU近端启动子区存在两个多态性位点-25C/T(rs2227579)和43G/T(rs2227580)。-25C/C基因型增加了AD发病风险(校正后OR=1.671,95%CI:1.098～2.577,P=0.018),43G/G基因型增加了AD发病风险(校正后OR=1.773,95%CI:1.156～2.732,P=0.009)。PLAU基因启动子区-25C/T位点与43G/T位点未发现存在连锁不平衡(D’=0.031,r2=0.000)。结论 PLAU基因启动子区变异与阿尔茨海默病的发生有相关性。 Objective The purpose of this study was to determine whether Alzheimer’s disease （AD） is associated with the promoter polymorphisms of urokinase-type plasminogen activator gene （PLAU）. Methods Our study was carried out in 98 AD patients （according to NINCDS-ADRDA） and 101 control subjects from North China. We used a combination of polymerase chain reaction restriction fragment length polymorphism （PCR-RFLP） and DNA sequencing technique to screen the promoter region of the PLAU gene. Results In Chinese Han populations,we found two polymorphisms in PLAU promoter：-25C/T （rs2227579） and 43G/T （rs2227580）. Logistic analyses indicated that compared with C/T and T/T genotypes,-25C/C genotype increased 1.7-fold risk for developing AD （adjusted OR=1.681,95%CI：1.098～2.577,P=0.017）,while 43G/G genotype increased 1.8-fold risk for AD （adjusted OR=1.776,95%CI：1.156～2.732,P=0.009） compared with G/T and T/T genotype. Linkage disequilibrium analysis was conducted and no association between the two sites was found （D’=0.031,r2=0.000）. Conclusion The present study provides evidence that PLAU promoter polymorphisms are associated with development of AD.
作者 纪晓军 韩迪 何宏 李红云 郭壮丽 裴海涛 贾建平
机构地区 青岛大学医学院附属医院急诊神经科 青岛大学医学院附属医院检验科 首都医科大学宣武医院神经科
出处 《中风与神经疾病杂志》 CAS CSCD 北大核心 2010年第7期621-624,共4页 Journal of Apoplexy and Nervous Diseases
关键词 阿尔茨海默病 尿激酶型纤溶酶原激活剂基因 启动子 单核苷酸多态性 PLAU gene Promoter Alzheimer’s disease Polymorphism
分类号 R749.16 [医药卫生—神经病学与精神病学]
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中风与神经疾病杂志
2010年 第7期

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