Is the saitohin gene involved in neurodegenerative diseases?
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.
Verpillat
Patrice
P
INSERM U535, Le Kremlin Bicêtre Cedex, University Hospital Bichat, University Paris, Paris, France.
Ricard
Sylvain
S
Hannequin
Didier
D
Dubois
Bruno
B
Bou
Jacqueline
J
Camuzat
Agnès
A
Pradier
Laurent
L
Frebourg
Thierry
T
Brice
Alexis
A
Clerget-Darpoux
Françoise
F
Deleuze
Jean-François
JF
Campion
Dominique
D
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*
C458340:STH protein, human; D016875:tau Proteins