PLAU基因单体型与晚发性阿尔茨海默病的相关性研究  

Analysis on the association between two polymorphism haplotypes of urokinase-type plasminogen activator gene and late onset Alzheimer’s disease

作　　者：季雪莲[1,2] 贾龙飞[1] 贾建平[1] 

机构地区：[1]首都医科大学北京宣武医院神经内科,教育部省部共建神经变性病实验室 [2]内蒙古自治区医院神经内科,内蒙古呼和浩特010017

出　　处：《中风与神经疾病杂志》2008年第3期289-291,共3页Journal of Apoplexy and Nervous Diseases

摘　　要：目的探讨PLAU(plasminogen activator urinary)基因单体型与晚发性阿尔茨海默病(Alzheimer,sdisease,AD)的相关性。方法应用基因测序的方法对PLAU基因rs2227562、rs2227563、rs2227564和rs12255769位点进行单核苷酸多态性的筛查,结果rs2227563和rs12255769位点未发现单核苷酸的多态性,rs2227564和rs2227562位点分别具有C/T及A/G单核苷酸的多态性。应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法对实验及对照组人群进行rs2227564和rs2227562两个位点基因型的检测,并对这两个多态性位点进行连锁不平衡检验,用SHEsis软件进行单体型分析。结果经病例-对照相关性分析表明PLAU基因rs2227564和rs2227562位点存在连锁不平衡(D’=0.827),研究对象中有C-A、C-G、T-A和T-G4种单体型,其中AD组T-A单体型频率明显低于对照组,两组比较差异有统计学意义(P=0.033,OR=0.189)。C-A、C-G和T-G3种单体型频率在两组人群中分布的差异无统计学意义。结论由PLAU基因rs2227564位点和rs2227562位点组成的T-A单体型可能降低晚发性阿尔茨海默病的发病风险。Objective To study the association between haplotypes of PLAU （plasminogen activator urinary） gene and late onset Alzheimer＇ s disease （AD）. Methods Gene sequencing was used to screen single nucleotide polymorphism （SNP） of rs2227562, rs2227563, rs2227564 and rs12255769 sites of PLAU gene. Polymerase chain reaction restriction fragment length polymorphism（PCR-RFLP） was used to screen the genotypes of rs2227564 C/T and rs2227562 A/G poly- morphisms of the PLAU gene. For the SNP of rs2227564,a total of 157 AD patients and a group of 128 healthy controls were enrolled. For the SNP of rs2227562,a total of 140 AD patients and a group of 121 healthy controls were enrolled. Linkage disequilibrium test and haplotypes were estimated between two polymorphisms. Results The two polymorphisms of PLAU gene were significantly linkage disequilibrium （ D＇ = 0. 827 ）. There were have C-A, C-G, T-A and T-G four types of haplotypes,witb T-A haplotype carriers at lower risk of developing of AD（ P = 0. 033, OR = 0. 189 ）. Conclusion The haplotypes of rs2227564 and rs2227562 polymorphisms were significantly related to late onset Alzheimer＇ s disease.

关 键 词：阿尔茨海默病 纤溶酶原激活剂(尿激酶型) 单核苷酸多态性 单体型 

分 类 号：R749.16[医药卫生—神经病学与精神病学]