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No Association of LOXL1 Gene Polymorphisms with Alzheimer's Disease

Abramsson, Alexandra; Landgren, Sara; Zetterberg, Madeleine; Palmer, Mona Seibt; Minthon, Lennart LU ; Gustafson, Deborah R.; Skoog, Ingmar; Blennow, Kaj and Zetterberg, Henrik (2011) In NeuroMolecular Medicine 13(2). p.160-166
Abstract
Aggregation of amyloid-beta is one of the major characteristics in brains of patients with Alzheimer's disease (AD). Although several mechanisms behind the formation of such aggregates have been suggested the regulatory factors are still unknown. The present study aimed at investigating the association of lysyl oxidase-like 1 (LOXL1) polymorphisms with AD diagnosis and cerebrospinal fluid biomarkers (CSF) for the disease. Proteins of the lysyl oxidase (LOX) family are involved in cross-linking extracellular matrix proteins to insoluble fibers and have been associated with neurodegenerative diseases including AD. Genetic polymorphisms in LOXL1 (rs1048661, rs3825942, and rs2165241) have been linked to exfoliation syndrome and exfoliation... (More)
Aggregation of amyloid-beta is one of the major characteristics in brains of patients with Alzheimer's disease (AD). Although several mechanisms behind the formation of such aggregates have been suggested the regulatory factors are still unknown. The present study aimed at investigating the association of lysyl oxidase-like 1 (LOXL1) polymorphisms with AD diagnosis and cerebrospinal fluid biomarkers (CSF) for the disease. Proteins of the lysyl oxidase (LOX) family are involved in cross-linking extracellular matrix proteins to insoluble fibers and have been associated with neurodegenerative diseases including AD. Genetic polymorphisms in LOXL1 (rs1048661, rs3825942, and rs2165241) have been linked to exfoliation syndrome and exfoliation glaucoma, conditions that have shown association with AD. The polymorphisms were genotyped by Taqman allelic discrimination in a study sample including AD patients (n = 318) and controls (n = 575). In a subgroup of the population, the polymorphisms were analyzed in relation to APOE epsilon 4 genotype and to CSF (T-tau, P-tau, and A beta(1-42)). No evidence for associations of these polymorphisms with risk for AD or any of the studied CSF biomarkers measured was found. These results do not support LOXL1 as being a major risk gene for AD. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Lysyl oxidase-like 1, LOXL1, Alzheimer's disease, SNP, Haplotype
in
NeuroMolecular Medicine
volume
13
issue
2
pages
160 - 166
publisher
Humana Press
external identifiers
  • wos:000291258000006
  • scopus:80051545114
ISSN
1535-1084
DOI
10.1007/s12017-011-8144-z
language
English
LU publication?
yes
id
5a685406-421b-4ad2-8d20-4f801c11df10 (old id 1985270)
date added to LUP
2011-07-01 09:05:51
date last changed
2017-01-15 03:11:23
@article{5a685406-421b-4ad2-8d20-4f801c11df10,
  abstract     = {Aggregation of amyloid-beta is one of the major characteristics in brains of patients with Alzheimer's disease (AD). Although several mechanisms behind the formation of such aggregates have been suggested the regulatory factors are still unknown. The present study aimed at investigating the association of lysyl oxidase-like 1 (LOXL1) polymorphisms with AD diagnosis and cerebrospinal fluid biomarkers (CSF) for the disease. Proteins of the lysyl oxidase (LOX) family are involved in cross-linking extracellular matrix proteins to insoluble fibers and have been associated with neurodegenerative diseases including AD. Genetic polymorphisms in LOXL1 (rs1048661, rs3825942, and rs2165241) have been linked to exfoliation syndrome and exfoliation glaucoma, conditions that have shown association with AD. The polymorphisms were genotyped by Taqman allelic discrimination in a study sample including AD patients (n = 318) and controls (n = 575). In a subgroup of the population, the polymorphisms were analyzed in relation to APOE epsilon 4 genotype and to CSF (T-tau, P-tau, and A beta(1-42)). No evidence for associations of these polymorphisms with risk for AD or any of the studied CSF biomarkers measured was found. These results do not support LOXL1 as being a major risk gene for AD.},
  author       = {Abramsson, Alexandra and Landgren, Sara and Zetterberg, Madeleine and Palmer, Mona Seibt and Minthon, Lennart and Gustafson, Deborah R. and Skoog, Ingmar and Blennow, Kaj and Zetterberg, Henrik},
  issn         = {1535-1084},
  keyword      = {Lysyl oxidase-like 1,LOXL1,Alzheimer's disease,SNP,Haplotype},
  language     = {eng},
  number       = {2},
  pages        = {160--166},
  publisher    = {Humana Press},
  series       = {NeuroMolecular Medicine},
  title        = {No Association of LOXL1 Gene Polymorphisms with Alzheimer's Disease},
  url          = {http://dx.doi.org/10.1007/s12017-011-8144-z},
  volume       = {13},
  year         = {2011},
}