Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease

Ann Neurol. 2006 Jan;59(1):21-6. doi: 10.1002/ana.20673.

Abstract

Several studies have reported evidence for linkage of late-onset Alzheimer's disease (LOAD) to chromosome 9. Recently, an intronic polymorphism affecting alternative splicing of exon 8 of ubiquilin 1 (UBQLN1) was reported to be associated with LOAD. We attempted to replicate this observation by genotyping this polymorphism, rs12344615 (also known as UBQ-8i), in a large sample of 1,544 LOAD cases and 1,642 nondemented controls. We did not find any evidence that this single nucleotide polymorphism, or any of six others tested in UBQLN1, increases risk for LOAD.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / metabolism
  • Autophagy-Related Proteins
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Cell Cycle Proteins / genetics*
  • Cell Cycle Proteins / metabolism
  • Female
  • Genotype
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Middle Aged
  • Polymorphism, Genetic*
  • Risk Factors

Substances

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