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A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease.
Hum. Mol. Genet. 15, 2446-2456 (2006)
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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 (A beta) 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 A beta proteins.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
APOLIPOPROTEIN-E; GENOME SCREEN; ONSET; LINKAGE; GENE; GENOTYPE; CHROMOSOME-10; LOCUS; AGE; SUSCEPTIBILITY
Language
english
Publication Year
2006
HGF-reported in Year
2006
ISSN (print) / ISBN
0964-6906
e-ISSN
1460-2083
Journal
Human Molecular Genetics
Quellenangaben
Volume: 15,
Issue: 16,
Pages: 2446-2456
Publisher
Oxford University Press
Reviewing status
Peer reviewed
Institute(s)
Institute of Epidemiology (EPI)
POF-Topic(s)
30503 - Chronic Diseases of the Lung and Allergies
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-503900-003
PubMed ID
16825285
WOS ID
WOS:000239901700005
Scopus ID
33747884644
Erfassungsdatum
2006-09-25