Oliveira Sofia A, Martin Eden R, Scott William K, Nicodemus Kristin K, Small Gary W, Schmechel Donald E, Doraiswamy P Murali, Roses Allen D, Saunders Ann M, Gilbert John R, Haines Jonathan L, Vance Jeffery M, Pericak-Vance Margaret A
Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Box 3445, Duke University Medical Center, Durham, NC 27710, USA.
Neurosci Lett. 2003 Aug 28;347(3):143-6. doi: 10.1016/s0304-3940(03)00670-0.
Previous studies have reported conflicting results regarding the association of the Q7R polymorphism in the Saitohin gene with late-onset Alzheimer disease (AD). Given that AD is a tauopathy but no mutations or polymorphisms in Tau have been consistently associated with AD, and that Saitohin is nested in intron 9 of Tau and shares a similar expression pattern, we tested this association in 690 multiplex AD families and in a case-control sample (903 patients and 320 controls). We found no evidence of significant association of this polymorphism with risk of AD using family-based and case-control tests of association.
先前的研究报告了关于斋藤蛋白基因中Q7R多态性与晚发型阿尔茨海默病（AD）之间关联的相互矛盾的结果。鉴于AD是一种tau蛋白病，但Tau蛋白中没有突变或多态性与AD一直相关，并且斋藤蛋白嵌套在Tau蛋白的内含子9中并具有相似的表达模式，我们在690个多重AD家族以及一个病例对照样本（903例患者和320例对照）中测试了这种关联。我们通过基于家系和病例对照的关联测试，未发现该多态性与AD风险存在显著关联的证据。
