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No association betw...
Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Klinisk laboratoriemedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Clinical Laboratory Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Nyckelord
- Aged
- Alzheimer Disease
- genetics
- pathology
- Apolipoprotein E4
- Apolipoproteins E
- genetics
- Base Sequence
- Blotting
- Western
- Electrophoresis
- Polyacrylamide Gel
- European Continental Ancestry Group
- genetics
- Female
- Gene Deletion
- Gene Expression
- Gene Frequency
- Genetic Predisposition to Disease
- Genotype
- Humans
- Male
- Molecular Sequence Data
- Plaque
- Amyloid
- pathology
- Polymorphism
- Genetic
- RNA
- Messenger
- metabolism
- Reverse Transcriptase Polymerase Chain Reaction
- Sequence Analysis
- DNA
- alpha-Macroglobulins
- analysis
- cerebrospinal fluid
- genetics
- MEDICINE
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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- Av författaren/redakt...
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Blennow, Kaj, 19 ...
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Ricksten, Anne, ...
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Prince, J A
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Brookes, A J
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Emahazion, T
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Wasslavik, Carin ...
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visa fler...
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Bogdanovic, N
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Andreasen, Niels
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Båtsman, S
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Marcusson, Jan, ...
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Nägga, Katarina
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Wallin, Anders, ...
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Regland, Björn, ...
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Olofsson, H
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Hesse, Camilla
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Davidsson, Pia, ...
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Minthon, Lennart
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Jansson, Ann, 19 ...
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Palmqvist, Lars, ...
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Rymo, Lars, 1940
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