title: The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease.
abstract: 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.
authors.affiliation: Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Box 3445, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: Sofia A
authors.initials: SA
authors.lastname: Oliveira
authors.forename: Eden R
authors.initials: ER
authors.lastname: Martin
authors.forename: William K
authors.initials: WK
authors.lastname: Scott
authors.forename: Kristin K
authors.initials: KK
authors.lastname: Nicodemus
authors.forename: Gary W
authors.initials: GW
authors.lastname: Small
authors.forename: Donald E
authors.initials: DE
authors.lastname: Schmechel
authors.forename: P Murali
authors.initials: PM
authors.lastname: Doraiswamy
authors.forename: Allen D
authors.initials: AD
authors.lastname: Roses
authors.forename: Ann M
authors.initials: AM
authors.lastname: Saunders
authors.forename: John R
authors.initials: JR
authors.lastname: Gilbert
authors.forename: Jonathan L
authors.initials: JL
authors.lastname: Haines
authors.forename: Jeffery M
authors.initials: JM
authors.lastname: Vance
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Pericak-Vance
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics*; D016022:Case-Control Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D011110:Polymorphism, Genetic; D016875:tau Proteins / Q000235:genetics*
chemical_list: C458340:STH protein, human; D016875:tau Proteins