Sorl1 as an Alzheimer's disease predisposition gene?

Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Ariz., USA.
Neurodegenerative Diseases (Impact Factor: 3.41). 02/2008; 5(2):60-4. DOI: 10.1159/000110789
Source: PubMed

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.

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