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
Sofia A
SA
Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Box 3445, Duke University Medical Center, Durham, NC 27710, USA.
Martin
Eden R
ER
Scott
William K
WK
Nicodemus
Kristin K
KK
Small
Gary W
GW
Schmechel
Donald E
DE
Doraiswamy
P Murali
PM
Roses
Allen D
AD
Saunders
Ann M
AM
Gilbert
John R
JR
Haines
Jonathan L
JL
Vance
Jeffery M
JM
Pericak-Vance
Margaret A
MA
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*
C458340:STH protein, human; D016875:tau Proteins