TAU Haplotype and the Saitohin Q7R Gene Polymorphism Do Not Influence CSF Tau in Alzheimer’s Disease and Are Not Associated with Frontotemporal Dementia or Parkinson’s Disease (original) (raw)
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Research Articles| August 10 2005
aDepartments of Clinical Neuroscience, Unit of Neurochemistry,
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aDepartments of Clinical Neuroscience, Unit of Neurochemistry,
bClinical Chemistry and Transfusion Medicine, and
dCenter for Neurologic Diseases, Brigham and Women’s Hospital and Harvard Medical School, Boston, Mass., USA
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cPharmacology, The Sahlgrenska Academy at Göteborg University, Göteborg, Sweden;
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cPharmacology, The Sahlgrenska Academy at Göteborg University, Göteborg, Sweden;
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aDepartments of Clinical Neuroscience, Unit of Neurochemistry,
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Neurodegener Dis (2005) 2 (1): 28–35.
Received:
September 22 2004
Accepted:
December 08 2004
Published Online:
August 10 2005
Abstract
Background: Recent studies have described Saitohin(STH), a gene located in the human TAU gene. The corresponding protein shows a similar tissue expression to tau, which is involved in many neurodegenerative disorders including Alzheimer’s disease (AD), frontotemporal dementia (FTD) and Parkinson’s disease (PD). A single nucleotide polymorphism in the STH gene has been suggested to be involved in sporadic AD and is in complete linkage disequilibrium with the TAU haplotype H1. Objective: A case-control study was performed to further explore the possible involvement of the STH Q7R polymorphism and the extended TAU haplotype in AD, FTD or PD. Methods: Patients with AD (n = 398), FTD (n = 96) and PD (n = 105), and controls (n = 186) were genotyped for the STH polymorphism and/or the TAU haplotype. Genotype data were related to levels of total-tau, phospho-tau and Aβ1–42 in cerebral spinal fluid (CSF) in more than 300 AD patients and to an amount of senile plaques and neurofibrillary tangles in the frontal cortex and hippocampus in patients with autopsy-confirmed AD. Results: The STH Q7R polymorphism and the TAU haplotype were in complete linkage disequilibrium in all patients (AD and FTD) and controls investigated for both genes. There were no significant differences in genotype or allele distributions in AD, FTD or PD cases compared to controls. Neither TAU haplotype nor STH influenced CSF levels of total-tau, phospho-tau and Aβ1–42 significantly. In AD patients with neuropathological scores of plaque and tangles, no associations with TAU haplotype and STH were found. Conclusion: We found no evidence that could support a major pathogenic role of STH and TAU haplotype in AD, FTD or PD.
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© 2005 S. Karger AG, Basel
2005
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