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Nicastrin启动子区多态性与散发阿尔茨海默病相关性研究
作者: 马中华 丛琳 王珊 贾建平 董秀敏 MA Zhonghua GONG Lin WANG Shan JIA Jianping DONG Xiumin
单位:首都医科大学宣武医院神经内科,北京,100053
关键词: 阿尔茨海默病 Nicastrin 启动子 单核苷酸多态性位点
分类号:
出版年·卷·期(页码):2009·35·第 3 期(0-0)
摘要:
目的 探讨Nicastrin(NCSTN)基因启动子区多态性与散发阿尔茨海默病(sporadic Alzheimer's dis-ease,SAD)发病的关系及其机制.方法 用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和直接测序的方法对中国北方汉族359例SAD患者和331名正常对照者NCSTN基因启动子区单核苷酸多态性位点(SNP)进行筛查,基因分型后,进行病例对照-相关分析.构建三种不同基因型启动子质粒,通过双荧光报告基因系统检测不同启动子质粒的转录活性.结果 ①中国北方人群中的NCSTN基因启动子区ATG上游2245 bp范围内存在3个SNP:-1216C/A(rs2147471),-796T/G(rs10752637)和-436C/T(rs1324738);②-1216C/A和-796T/G的基因型频率在各自的SAD组和正常对照组中的分布差异有统计学意义;③三种启动子质粒的转录活性差异无统计.结论 NCSTN启动子区SNP:-796T/G和-1216C/A,与SAD的发病具有相关性,但未发现这两个位点具有病理学功能.
参考文献:
  • Xie J.Guo Q PAR-4 is involved in regulation of beta-secretase cleavage of the Alzheimer amyloid precursor protein 2005(14)
  • Yu G.Nishimura M.Amwaka S Nicastrin modulates presenilin-mediated notch/glp-1 signal traneduction and betaAPP processing 2000(6800)
  • McKhann G.Drachman D.Folstein M Clinical diagnosis of Alzheimer's disease:report of the NINCDS-ADBDA Work Group under the auspices of Department of Health and Human Services Task Forco an Alzheimer's Disease 1984(07)
  • Drzezga A.Riemenschneider M.Grimmer T Cerebral glucose metabolism in patients with AD and different APOE genotypes 2005(01)
  • Zhang YW.Luo WJ.Wang H Nicastrin is critical for stability and trafficking but not association of other Presenilin/ γsecretnse components 2005(17)
  • Murphy MP.Des P.Nyborg AC Overexpression of nicastrin increases Abeta production 2003(09)
  • Hiltunen M.Mannermaa A.Thompson D Genome-wide linkage disequilibrium mapping of late-onset Alzheimer's disease in Finland 2001(09)
  • Kehoe P.Wavrant-De Vrieze F.Crook R A full genome scan for late onset Alzheimer's disease 1999(08)
  • Orlacchio A.Kawarai T.Polidoro M Lack of association between Alzheimer's disease and t he promoter region polymorphisms of t he nicastrin gone 2004(01)
  • Wilson AG.Symons JA.McDowell TL Effects of a polymorphism in the human tumor necrosis factor α promoter on transcriptional activation 1997(07)
  • Auramaa R.Valsamem SB.Luong LA Stronmelysin-1 and interleukin-6 gene promoter polymorphisms are determinants of asymptomatic carotid arteru atheresclerosis 2000(12)
  • Umphries SE.Luong LA.Ogg MS The intedeukm-6-174 G/C promoter polymorphism is associated with risk of coronary heart disease and systolic blood pressure in healthy men 2001(24)
  • Vetrivel KS.Cheng H.Kim SH Spatial segregation of gamma-secretase and substrates in distinct NCSTN membrane domains 2005(27)
  • Dermaut B.Theuns J.Sleegers K The gone encoding nicastrin,a major gamma-secretase component,modifies risk for familial early-onset Alzheimer's disease in a Dutch populationbased sample 2002(06)
  • Helisalmi S.Dermaut B.Hiltunen M Possible association of nicastrin polymorphisms and Alzheimer's disease in the Finnish population 2004(01)
  • Cousin E.Hannequin D.Mace S No replication of t he association between the Nicast rin gene and familial early-onset Alzheimer's disease 2003(02)
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