The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease.
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.
Oliveira, SA; Martin, ER; Scott, WK; Nicodemus, KK; Small, GW; Schmechel, DE; Doraiswamy, PM; Roses, AD; Saunders, AM; Gilbert, JR; Haines, JL; Vance, JM; Pericak-Vance, MA
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