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No association between the alpha2-macroglobulin (A2M) deletion and Alzheimer's disease, and no change in A2M mRNA, protein, or protein expression

Blennow, K ; Ricksten, A ; Prince, J A ; Brookes, A J ; Emahazion, T ; Wasslavik, C ; Bogdanovic, N ; Andreasen, N ; Batsman, S and Marcusson, J , et al. (2000) In Journal of Neural Transmission 107(8-9). p.1065-1079
Abstract
A polymorphism consisting of a deletion near the 5' splice site of exon 18 on the alpha2-macroglobulin (A2M) gene (A2M-2) has been suggested to be associated with Alzheimer's disease (AD) in family-based studies. We studied the A2M-2 allele together with the ApoE alleles in a large series on patients with AD (n = 449) and age-matched controls (n = 349). Neuropathologically confirmed diagnoses were available in 199 cases (94 AD and 107 control cases). We found no increase in A2M-2 genotype or allele frequencies in AD (27.5% and 14.6%) versus controls (26.4% and 14.9%). In contrast, a marked increase (p < 0.0001) in ApoE epsilon4 genotype or allele frequencies was found in AD (66.6% and 41.2%) as compared with controls (29.8% and 16.5%),... (More)
A polymorphism consisting of a deletion near the 5' splice site of exon 18 on the alpha2-macroglobulin (A2M) gene (A2M-2) has been suggested to be associated with Alzheimer's disease (AD) in family-based studies. We studied the A2M-2 allele together with the ApoE alleles in a large series on patients with AD (n = 449) and age-matched controls (n = 349). Neuropathologically confirmed diagnoses were available in 199 cases (94 AD and 107 control cases). We found no increase in A2M-2 genotype or allele frequencies in AD (27.5% and 14.6%) versus controls (26.4% and 14.9%). In contrast, a marked increase (p < 0.0001) in ApoE epsilon4 genotype or allele frequencies was found in AD (66.6% and 41.2%) as compared with controls (29.8% and 16.5%), suggesting sufficient statistical power in our sample. No relation was found between the A2M-2 and the ApoE epsilon4 allele. No change in A2M exon 17-18 mRNA size or sequence or A2M protein size was found in cases carrying the A2M-2 deletion, suggesting that there is no biological consequences of the A2M intronic deletion. No change in A2M protein level in cerebrospinal fluid was found in AD, suggesting that the A2M-2 allele does not effect the A2M protein expression in the brain. The lack of an association between the A2M-2 allele and AD in the present study, and the lack of abnormalities in the A2M mRNA or protein suggest that the A2M-2 allele is not associated with AD. (Less)
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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Journal of Neural Transmission
volume
107
issue
8-9
pages
1065 - 1079
publisher
Springer
external identifiers
  • wos:000088951700016
  • scopus:0033626319
ISSN
0300-9564
DOI
10.1007/s007020070052
language
English
LU publication?
yes
id
53a16022-b2d8-4525-98ff-66e6a921df12 (old id 1297001)
date added to LUP
2016-04-01 16:05:39
date last changed
2022-03-14 22:03:39
@article{53a16022-b2d8-4525-98ff-66e6a921df12,
  abstract     = {{A polymorphism consisting of a deletion near the 5' splice site of exon 18 on the alpha2-macroglobulin (A2M) gene (A2M-2) has been suggested to be associated with Alzheimer's disease (AD) in family-based studies. We studied the A2M-2 allele together with the ApoE alleles in a large series on patients with AD (n = 449) and age-matched controls (n = 349). Neuropathologically confirmed diagnoses were available in 199 cases (94 AD and 107 control cases). We found no increase in A2M-2 genotype or allele frequencies in AD (27.5% and 14.6%) versus controls (26.4% and 14.9%). In contrast, a marked increase (p &lt; 0.0001) in ApoE epsilon4 genotype or allele frequencies was found in AD (66.6% and 41.2%) as compared with controls (29.8% and 16.5%), suggesting sufficient statistical power in our sample. No relation was found between the A2M-2 and the ApoE epsilon4 allele. No change in A2M exon 17-18 mRNA size or sequence or A2M protein size was found in cases carrying the A2M-2 deletion, suggesting that there is no biological consequences of the A2M intronic deletion. No change in A2M protein level in cerebrospinal fluid was found in AD, suggesting that the A2M-2 allele does not effect the A2M protein expression in the brain. The lack of an association between the A2M-2 allele and AD in the present study, and the lack of abnormalities in the A2M mRNA or protein suggest that the A2M-2 allele is not associated with AD.}},
  author       = {{Blennow, K and Ricksten, A and Prince, J A and Brookes, A J and Emahazion, T and Wasslavik, C and Bogdanovic, N and Andreasen, N and Batsman, S and Marcusson, J and Nägga, Katarina and Wallin, A and Regland, B and Olofsson, H and Hesse, C and Davidsson, P and Minthon, Lennart and Jansson, A and Palmqvist, L and Rymo, L}},
  issn         = {{0300-9564}},
  language     = {{eng}},
  number       = {{8-9}},
  pages        = {{1065--1079}},
  publisher    = {{Springer}},
  series       = {{Journal of Neural Transmission}},
  title        = {{No association between the alpha2-macroglobulin (A2M) deletion and Alzheimer's disease, and no change in A2M mRNA, protein, or protein expression}},
  url          = {{http://dx.doi.org/10.1007/s007020070052}},
  doi          = {{10.1007/s007020070052}},
  volume       = {{107}},
  year         = {{2000}},
}