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Neurosci Lett. 2003 Aug 28;347(3):143-6.

The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease.

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Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Box 3445, Duke University Medical Center, Durham, NC 27710, USA.


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.

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