title: Is the saitohin gene involved in neurodegenerative diseases?
abstract: Recently, a single nucleotide polymorphism that results in an amino acid change (Q7R) was identified in a previously undescribed gene, named saitohin, nested within the tau gene. We analyzed the distribution of this polymorphism in 499 patients with Alzheimer's disease, 91 patients with frontotemporal dementia, and 402 controls. This polymorphism was in complete disequilibrium with the well-defined extended tau haplotype. We failed to replicate the association between the RR genotype and late-onset Alzheimer's disease, but we found a trend toward an association between the QQ genotype and frontotemporal dementia. Thus, the saitohin Q allele, which is a novel determinant of the tau H1 haplotypes, might represent a causative factor involved in the determinism of several tauopathies.
authors.affiliation: INSERM U535, Le Kremlin Bicêtre Cedex, University Hospital Bichat, University Paris, Paris, France.
authors.forename: Patrice
authors.initials: P
authors.lastname: Verpillat
authors.forename: Sylvain
authors.initials: S
authors.lastname: Ricard
authors.forename: Didier
authors.initials: D
authors.lastname: Hannequin
authors.forename: Bruno
authors.initials: B
authors.lastname: Dubois
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Bou
authors.forename: Agnès
authors.initials: A
authors.lastname: Camuzat
authors.forename: Laurent
authors.initials: L
authors.lastname: Pradier
authors.forename: Thierry
authors.initials: T
authors.lastname: Frebourg
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Françoise
authors.initials: F
authors.lastname: Clerget-Darpoux
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Deleuze
authors.forename: Dominique
authors.initials: D
authors.lastname: Campion
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016009:Chi-Square Distribution; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D019636:Neurodegenerative Diseases / Q000235:genetics*; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D016875:tau Proteins / Q000235:genetics*
chemical_list: C458340:STH protein, human; D016875:tau Proteins