Source:http://linkedlifedata.com/resource/pubmed/id/16825285
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
16
|
| pubmed:dateCreated |
2006-7-31
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| pubmed:abstractText |
A number of susceptibility loci for Alzheimer's disease (AD) have been identified including a region on Chromosome 10q21-q22. Within this region the plasminogen activator urokinase gene (PLAU) was considered as a reasonable candidate from its functional implication in plasmin generation, a serine protease capable of degrading beta-Amyloid (Abeta) protein. We screened 56 single nucleotide polymorphisms (SNPs) around PLAU using 1751 individuals from four independent case-control samples (Munich, N=679; Bonn N=282; Brescia (Italy) N=219; Perth (Australia) N=557 and one discordant sib-pair sample (Munich N=622). In brain tissue samples of neuropathologically confirmed cases with AD (N=33) we analyzed plaque counts according to the risk allele. We identified that one functional exonic SNP (rs2227564) is associated with development of AD using the four independent case-control samples (Munich, P=0.02; Bonn, P=0.005; Brescia (Italy), P=0.001; Perth (Australia), P=0.03) and the discordant sib-pair sample (P=0.001). In brain tissue, from neuropathologically confirmed cases with AD, we identified significantly higher plaque counts in carriers of the risk allele (N=6; 60.3+/-16.9) compared with non-carriers (N=9; 26.3+/-8.8; P=0.007). This study provides compelling evidence of a genetic and functional involvement of a common PLAU variant into the pathogenesis of AD. Further functional investigations are warranted to elucidate the specific role of PLAU, respectively, PLAU variants in the metabolism of Abeta proteins.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Aug
|
| pubmed:issn |
0964-6906
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| pubmed:author |
pubmed-author:ArchettiSilvanaS,
pubmed-author:BickeböllerHeikeH,
pubmed-author:BorroniBarbaraB,
pubmed-author:Diehl-SchmidJanineJ,
pubmed-author:EgenspergerRupertR,
pubmed-author:FörstlHansH,
pubmed-author:FriedrichPatriciaP,
pubmed-author:HeunReinhardR,
pubmed-author:IlligThomasT,
pubmed-author:KölschHeikeH,
pubmed-author:KloppNormanN,
pubmed-author:KontaLidijaL,
pubmed-author:KurzAlexanderA,
pubmed-author:LautenschlagerNicolaN,
pubmed-author:LawsSimon MSM,
pubmed-author:MüllerUlrichU,
pubmed-author:MartinsRalph NRN,
pubmed-author:MuellerJakob CJC,
pubmed-author:NeffFraukeF,
pubmed-author:PadovaniAlessandroA,
pubmed-author:RiemenschneiderMatthiasM,
pubmed-author:RosenbergerAlbertA,
pubmed-author:SchlegelJürgenJ,
pubmed-author:SchwarzSandraS,
pubmed-author:TaddeiKevinK,
pubmed-author:WagenpfeilStefanS
|
| pubmed:issnType |
Print
|
| pubmed:day |
15
|
| pubmed:volume |
15
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
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| pubmed:pagination |
2446-56
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| pubmed:dateRevised |
2010-11-18
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| pubmed:meshHeading |
pubmed-meshheading:16825285-Age of Onset,
pubmed-meshheading:16825285-Aged,
pubmed-meshheading:16825285-Aged, 80 and over,
pubmed-meshheading:16825285-Alzheimer Disease,
pubmed-meshheading:16825285-Apolipoproteins E,
pubmed-meshheading:16825285-Brain,
pubmed-meshheading:16825285-Case-Control Studies,
pubmed-meshheading:16825285-Diagnosis,
pubmed-meshheading:16825285-Female,
pubmed-meshheading:16825285-Gene Frequency,
pubmed-meshheading:16825285-Genetic Linkage,
pubmed-meshheading:16825285-Genotype,
pubmed-meshheading:16825285-Humans,
pubmed-meshheading:16825285-Linkage Disequilibrium,
pubmed-meshheading:16825285-Male,
pubmed-meshheading:16825285-Middle Aged,
pubmed-meshheading:16825285-Plaque, Amyloid,
pubmed-meshheading:16825285-Polymorphism, Genetic,
pubmed-meshheading:16825285-Reproducibility of Results,
pubmed-meshheading:16825285-Sequence Analysis, DNA,
pubmed-meshheading:16825285-Urokinase-Type Plasminogen Activator
|
| pubmed:year |
2006
|
| pubmed:articleTitle |
A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease.
|
| pubmed:affiliation |
Neurochemistry and Neurogenetics Laboratory, Department of Psychiatry and Psychotherapy, Technische Universitat München, Ismaningerstrasse 22, 81675 Munich, Germany. m.riemenschneider@lrz.tu-muenchen.de
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Multicenter Study
|