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Complement Gene Single Nucleotide Polymorphisms and Biomarker Endophenotypes of Alzheimer's Disease

Daborg, Jonny; Holmgren, Sandra; Abramsson, Alexandra; Andreasson, Ulf; Zetterberg, Madeleine; Nilsson, Staffan; Minthon, Lennart LU ; Skoog, Ingmar; Blennow, Kaj and Pekna, Marcela, et al. (2013) In Journal of Alzheimer's Disease 35(1). p.51-57
Abstract
The complement system has been implicated in both physiological synapse elimination and Alzheimer's disease (AD). Here, we investigated associations between four single nucleotide polymorphisms (SNPs) in complement genes and cerebrospinal fluid (CSF) biomarkers for AD in 452 neurochemically or neuropathologically verified AD cases and 678 cognitively normal controls. None of the SNPs were associated with risk of AD but there were potential associations of rs9332739 in the C2 gene and rs4151667 in the complement factor B gene with CSF tau levels (p = 0.023) and Mini-Mental State Examination scores (p = 0.012), both of which may be considered markers of disease intensity/severity.
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organization
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type
Contribution to journal
publication status
published
subject
keywords
Alzheimer's disease, complement, microglia, single nucleotide, polymorphisms
in
Journal of Alzheimer's Disease
volume
35
issue
1
pages
51 - 57
publisher
IOS Press
external identifiers
  • wos:000316940000004
  • scopus:84876383039
ISSN
1387-2877
DOI
10.3233/JAD-121930
language
English
LU publication?
yes
id
45f69ab8-2839-46f6-b8d4-17d02e9cc443 (old id 3749523)
date added to LUP
2013-06-03 08:39:13
date last changed
2019-02-20 01:13:02
@article{45f69ab8-2839-46f6-b8d4-17d02e9cc443,
  abstract     = {The complement system has been implicated in both physiological synapse elimination and Alzheimer's disease (AD). Here, we investigated associations between four single nucleotide polymorphisms (SNPs) in complement genes and cerebrospinal fluid (CSF) biomarkers for AD in 452 neurochemically or neuropathologically verified AD cases and 678 cognitively normal controls. None of the SNPs were associated with risk of AD but there were potential associations of rs9332739 in the C2 gene and rs4151667 in the complement factor B gene with CSF tau levels (p = 0.023) and Mini-Mental State Examination scores (p = 0.012), both of which may be considered markers of disease intensity/severity.},
  author       = {Daborg, Jonny and Holmgren, Sandra and Abramsson, Alexandra and Andreasson, Ulf and Zetterberg, Madeleine and Nilsson, Staffan and Minthon, Lennart and Skoog, Ingmar and Blennow, Kaj and Pekna, Marcela and Hanse, Eric and Zetterberg, Henrik},
  issn         = {1387-2877},
  keyword      = {Alzheimer's disease,complement,microglia,single nucleotide,polymorphisms},
  language     = {eng},
  number       = {1},
  pages        = {51--57},
  publisher    = {IOS Press},
  series       = {Journal of Alzheimer's Disease},
  title        = {Complement Gene Single Nucleotide Polymorphisms and Biomarker Endophenotypes of Alzheimer's Disease},
  url          = {http://dx.doi.org/10.3233/JAD-121930},
  volume       = {35},
  year         = {2013},
}