Abstract:
:Several lines of biochemical evidence support a role of alpha2-macroglobulin (A2M) in the pathogenesis of Alzheimer's dementia (AD). A2M participates in the general defence mechanism against proteinases and it is supposed to be involved in the degradation of beta-amyloid peptide (betaAP). Furthermore, A2M has been shown to reduce betaAP fibril formation, and it is upregulated in the acute-phase inflammatory response like the process occurring in the AD brain. The exon 18 splice acceptor deletion polymorphism and the exon 24 (Val-1000-Ile) GG genotype were reported to be associated with AD, but the results are contradictory. Since the Hungarian population is genetically distinct from the other European ethnic groups, we examined whether the risk for developing AD is increased in the A2M GG carriers. The interaction of apolipoprotein E (apoE) and A2M polymorphisms was also examined. The distribution of A2M genotypes and alleles in the entire data set was consistent with the previous negative observations in which A and G allelic frequencies were comparable in both groups (72% and 28% in the AD population, and 72% and 28% in the control population, respectively). The GG genotype was over-represented (14%) only in the apoE epsilon4 non-carrier subgroup of AD probands (7% in the control group), but the difference was not significant. Our data suggest that, although A2M has an important role in the AD-specific neurodegenerative process, its exon 24 Val-1000-Ile polymorphism is not likely to be associated with late-onset sporadic AD in the Hungarian population.
journal_name
Psychiatr Genetjournal_title
Psychiatric geneticsauthors
Janka Z,Juhász A,Rimanóczy A,Boda K,Márki-Zay J,Palotás M,Kuk I,Zöllei M,Jakab K,Kálmán Jdoi
10.1097/00041444-200203000-00007subject
Has Abstractpub_date
2002-03-01 00:00:00pages
49-54issue
1eissn
0955-8829issn
1473-5873journal_volume
12pub_type
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journal_title:Psychiatric genetics
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journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:
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更新日期:2010-02-01 00:00:00
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更新日期:1994-01-01 00:00:00
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更新日期:2009-06-01 00:00:00
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