Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2
U Finckh, K Van Hadeln, T Müller-Thomsen, A Alberici… - Neurogenetics, 2003 - Springer
U Finckh, K Van Hadeln, T Müller-Thomsen, A Alberici, G Binetti, C Hock, RM Nitsch…
Neurogenetics, 2003•SpringerUrokinase-type plasminogen activator (uPA) converts plasminogen to plasmin. Plasmin is
involved in processing of amyloid precursor protein and degrades secreted and aggregated
amyloid-β, a hallmark of Alzheimer disease (AD). PLAU, the gene encoding uPA, maps to
chromosome 10q22. 2 between two regions showing linkage to late-onset AD (LOAD). We
genotyped a frequent C/T single nucleotide polymorphism in codon 141 of PLAU (P141L) in
347 patients with LOAD and 291 control subjects. LOAD was associated with homozygous …
involved in processing of amyloid precursor protein and degrades secreted and aggregated
amyloid-β, a hallmark of Alzheimer disease (AD). PLAU, the gene encoding uPA, maps to
chromosome 10q22. 2 between two regions showing linkage to late-onset AD (LOAD). We
genotyped a frequent C/T single nucleotide polymorphism in codon 141 of PLAU (P141L) in
347 patients with LOAD and 291 control subjects. LOAD was associated with homozygous …
Abstract
Urokinase-type plasminogen activator (uPA) converts plasminogen to plasmin. Plasmin is involved in processing of amyloid precursor protein and degrades secreted and aggregated amyloid-β, a hallmark of Alzheimer disease (AD). PLAU, the gene encoding uPA, maps to chromosome 10q22.2 between two regions showing linkage to late-onset AD (LOAD). We genotyped a frequent C/T single nucleotide polymorphism in codon 141 of PLAU (P141L) in 347 patients with LOAD and 291 control subjects. LOAD was associated with homozygous C/C PLAU genotype in the whole sample (χ2=15.7, P=0.00039, df 2), as well as in all sub-samples stratified by gender or APOE ε4 carrier status (χ2≥ 6.84, P≤0.033, df 2). Odds ratio for LOAD due to homozygosity C/C was 1.89 (95% confidence interval 1.37–2.61). PLAU is a promising new candidate gene for LOAD, with allele C (P141) being a recessive risk allele or allele T (L141) conferring protection.
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