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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.
Neurodegener Dis. 2005; 2(1):28-35.ND

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 Abeta(1-42) 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 Abeta(1-42) 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.

Authors+Show Affiliations

Department of Clinical Neuroscience, Unit of Neurochemistry, The Sahlgrenska Academy at Göteborg University, Göteborg, Sweden. annica.johansson@clinchem.gu.seNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

16909000

Citation

Johansson, Annica, et al. "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." Neuro-degenerative Diseases, vol. 2, no. 1, 2005, pp. 28-35.
Johansson A, Zetterberg H, Håkansson A, et al. 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. Neurodegener Dis. 2005;2(1):28-35.
Johansson, A., Zetterberg, H., Håkansson, A., Nissbrandt, H., & Blennow, K. (2005). 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. Neuro-degenerative Diseases, 2(1), 28-35.
Johansson A, et al. 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. Neurodegener Dis. 2005;2(1):28-35. PubMed PMID: 16909000.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Johansson,Annica, AU - Zetterberg,Henrik, AU - Håkansson,Anna, AU - Nissbrandt,Hans, AU - Blennow,Kaj, PY - 2004/09/22/received PY - 2004/12/07/accepted PY - 2006/8/16/pubmed PY - 2006/10/4/medline PY - 2006/8/16/entrez SP - 28 EP - 35 JF - Neuro-degenerative diseases JO - Neurodegener Dis VL - 2 IS - 1 N2 - 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 Abeta(1-42) 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 Abeta(1-42) 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. SN - 1660-2854 UR - https://www.unboundmedicine.com/medline/citation/16909000/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_ L2 - https://www.karger.com?DOI=10.1159/000086428 DB - PRIME DP - Unbound Medicine ER -