The urokinase-type plasminogen activator polymorphism PLAU_1 is a risk factor for APOE-epsilon4 non-carriers in the Italian Alzheimer's disease population and does not affect the plasma Abeta(1-42) level

Neurobiol Dis. 2007 Mar;25(3):609-13. doi: 10.1016/j.nbd.2006.10.017. Epub 2006 Dec 15.

Abstract

Sporadic Alzheimer's disease (AD) is the most frequent form of dementia in the elderly. A non-conservative polymorphism in the urokinase-type plasminogen activator gene (PLAU_1=RS2227564) has been analyzed, but data are conflicting on whether it is a risk factor for AD. To clarify whether this genetic variant modifies AD risk in the Italian population, we ran a case-control association study on 192 AD and 126 age-matched controls. We did not find any association between PLAU_1 genotype and AD in the whole AD population, but when we stratified our sample by APOE-epsilon4 status, we found a significant association between PLAU_1 genotype (C/T+T/T) and APOE-epsilon4 negative AD subjects (p=0.02, chi(2)-test). The PLAU_1 genotype did not appear to affect the plasma Abeta42 concentration. Our data support a role for PLAU_1 as an independent genetic risk factor for AD in the Italian population for those subjects who do not have the APOE-epsilon4 allele.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alzheimer Disease / blood
  • Alzheimer Disease / epidemiology
  • Alzheimer Disease / genetics*
  • Amyloid beta-Peptides / blood*
  • Apolipoprotein E4 / genetics*
  • Case-Control Studies
  • Genetic Predisposition to Disease / epidemiology
  • Genotype
  • Humans
  • Italy / epidemiology
  • Middle Aged
  • Peptide Fragments / blood*
  • Polymorphism, Genetic
  • Risk Factors
  • Urokinase-Type Plasminogen Activator / genetics*

Substances

  • Amyloid beta-Peptides
  • Apolipoprotein E4
  • Peptide Fragments
  • amyloid beta-protein (1-42)
  • Urokinase-Type Plasminogen Activator