Sorl1 as an Alzheimer's disease predisposition gene?

Neurodegener Dis. 2008;5(2):60-4. doi: 10.1159/000110789. Epub 2007 Nov 1.

Abstract

Alzheimer's disease (AD) is a neurodegenerative disorder characterized by progressively disabling impairments in memory, cognition, and non-cognitive behavioural symptoms. Sporadic AD is multifactorial and genetically complex. While several monogenic mutations cause early-onset AD and gene alleles have been suggested as AD susceptibility factors, the only extensively validated susceptibility gene for late-onset AD is the apolipoprotein E (APOE) epsilon4 allele. Alleles of the APOE gene do not account for all of the genetic load calculated to be responsible for AD predisposition. Recently, polymorphisms across the neuronal sortilin-related receptor (SORL1) gene were shown to be significantly associated with AD in several cohorts. Here we present the results of our large case-control whole-genome scan at over 500,000 polymorphisms which presents weak evidence for association and potentially narrows the association interval.

Publication types

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

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / genetics*
  • Case-Control Studies
  • Female
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • LDL-Receptor Related Proteins / genetics*
  • Male
  • Membrane Transport Proteins / genetics*
  • Polymorphism, Genetic / genetics

Substances

  • Genetic Markers
  • LDL-Receptor Related Proteins
  • Membrane Transport Proteins
  • SORL1 protein, human