The UBQLN1 polymorphism, UBQ-8i, at 9q22 is not associated with Alzheimer's disease with onset before 70 years

Neurosci Lett. 2006 Jan 9;392(1-2):72-4. doi: 10.1016/j.neulet.2005.08.064. Epub 2005 Oct 6.


An intronic polymorphism affecting alternative splicing of exon 8 of ubiquilin 1 (UBQLN1), that is located at a well established Alzheimer's disease (AD) locus on chromosome 9q22, was recently associated with increased risk for late-onset AD. We analyzed this polymorphism in two independent AD samples consisting of patients with an onset age 70 years or less, but did not observe statistically significant association. Our study does not support a major role for this UBQLN1 polymorphism in AD patients with an earlier onset of disease.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Age of Onset
  • Aged
  • Alzheimer Disease / genetics*
  • Autophagy-Related Proteins
  • Carrier Proteins / genetics*
  • Case-Control Studies
  • Cell Cycle Proteins / genetics*
  • Chromosomes, Human, Pair 9*
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Genetic*


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