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Sorl1 as an Alzheimer's disease predisposition gene?


Webster, J A; Myers, A J; Pearson, J V; Craig, D W; Hu-Lince, D; Coon, K D; Zismann, V L; Beach, T; Leung, D; Bryden, L; Halperin, R F; Marlowe, L; Kaleem, M; Huentelman, M J; Joshipura, K; Walker, D; Heward, C B; Ravid, R; Rogers, J; Papassotiropoulos, A; Hardy, J; Reiman, E M; Stephan, D A (2008). Sorl1 as an Alzheimer's disease predisposition gene? Neurodegenerative Diseases, 5(2):60-64.

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.

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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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute for Regenerative Medicine (IREM)
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2008
Deposited On:09 Sep 2011 14:13
Last Modified:16 Aug 2016 10:14
Publisher:Karger
ISSN:1660-2854
Publisher DOI:10.1159/000110789
PubMed ID:17975299
Permanent URL: http://doi.org/10.5167/uzh-49532

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