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Ubiquitin carboxy-terminal hydrolase L1 (UCHL1) S18Y polymorphism in Alzheimer's disease

Zetterberg, Madeleine; Sjolander, Annica; von Otter, Malin; Palmer, Mona Seibt; Landgren, Sara; Minthon, Lennart LU ; Wallin, Anders; Andreasen, Niels; Blennow, Kaj and Zetterberg, Henrik (2010) In Molecular Neurodegeneration 5.
Abstract
Alzheimer's disease (AD) is characterized by protein aggregates, i.e. senile plaques and neurofibrillary tangles. The ubiquitin-proteasome system has been proposed a role in proteolytic removal of these protein aggregates. Ubiquitin carboxy-terminal hydrolase L1 (UCHL1) is a de-ubiquitinating enzyme with important functions in recycling of ubiquitin. The S18Y polymorphism of the UCHL1 gene confers protection against Parkinson's disease. In this study, the genotype and allele frequencies of the UCHL1 S18Y polymorphism were investigated in 452 AD patients and 234 control subjects, recruited from four memory clinics in Sweden. Using a binary logistic regression model including UCHL1 allele A and APOE epsilon 4 allele positivity, age and sex... (More)
Alzheimer's disease (AD) is characterized by protein aggregates, i.e. senile plaques and neurofibrillary tangles. The ubiquitin-proteasome system has been proposed a role in proteolytic removal of these protein aggregates. Ubiquitin carboxy-terminal hydrolase L1 (UCHL1) is a de-ubiquitinating enzyme with important functions in recycling of ubiquitin. The S18Y polymorphism of the UCHL1 gene confers protection against Parkinson's disease. In this study, the genotype and allele frequencies of the UCHL1 S18Y polymorphism were investigated in 452 AD patients and 234 control subjects, recruited from four memory clinics in Sweden. Using a binary logistic regression model including UCHL1 allele A and APOE epsilon 4 allele positivity, age and sex as covariates with AD diagnosis as dependent variable, an adjusted OR of 0.82 ([95% CI 0.55-1.24], P = 0.35) was obtained for a positive UCHL1 allele A carrier status. The present study thus do not support a protective effect of the UCHL1 S18Y polymorphism against AD. (Less)
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organization
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Contribution to journal
publication status
published
subject
in
Molecular Neurodegeneration
volume
5
publisher
BioMed Central
external identifiers
  • wos:000276414400001
  • scopus:77950591067
ISSN
1750-1326
DOI
10.1186/1750-1326-5-11
language
English
LU publication?
yes
id
46d30edd-9d1a-4ab3-8787-2b06c0106097 (old id 1603676)
date added to LUP
2010-05-19 08:53:32
date last changed
2018-05-29 10:09:29
@article{46d30edd-9d1a-4ab3-8787-2b06c0106097,
  abstract     = {Alzheimer's disease (AD) is characterized by protein aggregates, i.e. senile plaques and neurofibrillary tangles. The ubiquitin-proteasome system has been proposed a role in proteolytic removal of these protein aggregates. Ubiquitin carboxy-terminal hydrolase L1 (UCHL1) is a de-ubiquitinating enzyme with important functions in recycling of ubiquitin. The S18Y polymorphism of the UCHL1 gene confers protection against Parkinson's disease. In this study, the genotype and allele frequencies of the UCHL1 S18Y polymorphism were investigated in 452 AD patients and 234 control subjects, recruited from four memory clinics in Sweden. Using a binary logistic regression model including UCHL1 allele A and APOE epsilon 4 allele positivity, age and sex as covariates with AD diagnosis as dependent variable, an adjusted OR of 0.82 ([95% CI 0.55-1.24], P = 0.35) was obtained for a positive UCHL1 allele A carrier status. The present study thus do not support a protective effect of the UCHL1 S18Y polymorphism against AD.},
  author       = {Zetterberg, Madeleine and Sjolander, Annica and von Otter, Malin and Palmer, Mona Seibt and Landgren, Sara and Minthon, Lennart and Wallin, Anders and Andreasen, Niels and Blennow, Kaj and Zetterberg, Henrik},
  issn         = {1750-1326},
  language     = {eng},
  publisher    = {BioMed Central},
  series       = {Molecular Neurodegeneration},
  title        = {Ubiquitin carboxy-terminal hydrolase L1 (UCHL1) S18Y polymorphism in Alzheimer's disease},
  url          = {http://dx.doi.org/10.1186/1750-1326-5-11},
  volume       = {5},
  year         = {2010},
}