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Is the Saitohin gene involved in neurodegenerative diseases?
Author(s) -
Verpillat Patrice,
Ricard Sylvain,
Hannequin Didier,
Dubois Bruno,
Bou Jacqueline,
Camuzat Agnès,
Pradier Laurent,
Frebourg Thierry,
Brice Alexis,
ClergetDarpoux Françoise,
Deleuze JeanFrançois,
Campion Dominique
Publication year - 2002
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10384
Subject(s) - frontotemporal dementia , haplotype , genotype , genetics , allele , tau protein , disease , single nucleotide polymorphism , dementia , biology , polymorphism (computer science) , alzheimer's disease , gene , medicine
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.