Sorl1 as an Alzheimer's disease predisposition gene?

Jennifer A. Webster, Amanda J. Myers, John V. Pearson, David W. Craig, Diane Hu-Lince, Keith D. Coon, Victoria L. Zismann, Thomas Beach, Doris Leung, Leslie Bryden, Rebecca F. Halperin, Lauren Marlowe, Mona Kaleem, Matthew J. Huentelman, Keta Joshipura, Douglas Walker, Christopher B. Heward, Rivka Ravid, Joseph Rogers, Andreas PapassotiropoulosJohn Hardy, Eric M. Reiman, Dietrich A. Stephan

Research output: Contribution to journalArticlepeer-review

58 Scopus citations


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) ε4 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.

Original languageEnglish (US)
Pages (from-to)60-64
Number of pages5
JournalNeurodegenerative Diseases
Issue number2
StatePublished - Jan 2008
Externally publishedYes


  • APOE gene
  • Alzheimer's disease
  • Predisposition gene
  • Sorl1
  • Sortilin-related receptor

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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