Association study of the Ubiquilin gene with Alzheimer's disease

Neurobiol Dis. 2006 Jun;22(3):691-3. doi: 10.1016/j.nbd.2006.01.007. Epub 2006 Feb 28.

Abstract

Recently, the ubiquilin 1 gene has been proposed as a major candidate gene for AD. Here, we have investigated the potential impact of the UBQ-8i polymorphism (rs12344615) within this gene on the risk of developing AD. No association of this polymorphism with the disease was observed in a large French case-control population. Furthermore, no relationship between this polymorphism and Abeta load or degree of neurofibrillary degeneration in the brains of 114 patients with AD was detected.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Aged
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology*
  • Amyloid beta-Peptides / metabolism
  • Autophagy-Related Proteins
  • Brain / metabolism
  • Brain / pathology*
  • Carrier Proteins / genetics*
  • Case-Control Studies
  • Cell Cycle Proteins / genetics*
  • Female
  • Gene Frequency
  • Humans
  • Male
  • Nerve Degeneration / metabolism
  • Nerve Degeneration / pathology
  • Neurofibrillary Tangles / metabolism
  • Neurofibrillary Tangles / pathology
  • Polymorphism, Genetic

Substances

  • Adaptor Proteins, Signal Transducing
  • Amyloid beta-Peptides
  • Autophagy-Related Proteins
  • Carrier Proteins
  • Cell Cycle Proteins
  • UBQLN1 protein, human