Sorl1 as an Alzheimer's disease predisposition gene?

被引：61

作者：

Webster, Jennifer A. ^{[1
]}

Myers, AmandaJ. ^{[2
]}

Pearson, John V. ^{[1
]}

Craig, David W. ^{[1
]}

Diane, Hu-Lincea ^{[1
]}

Coon, Keith D. ^{[1
]}

Zismann, Victoria L. ^{[1
]}

Beach, Thomas ^{[3
,4
]}

Leunge, Doris ^{[5
]}

Bryden, Leslie ^{[5
]}

Halperin, Rebecca F. ^{[1
]}

Marlowe, Lauren ^{[5
]}

Kaleem, Mona ^{[5
]}

Huentelman, Matthew J. ^{[1
]}

Joshipura, Keta ^{[1
]}

Walker, Douglas ^{[3
,4
]}

Heward, Christopher B. ^{[6
]}

Ravidi, Rivka ^{[9
]}

Rogers, Joseph ^{[3
,4
]}

Papassotiropoulos, Andreas ^{[1
,10
]}

Hardy, John ^{[2
]}

Reiman, Eric M. ^{[1
,4
,7
,8
]}

Stephan, Dietrich A. ^{[1
,4
]}

机构：

[1] Translat Genom Res Inst, Neurogenom Div, Phoenix, AZ 85004 USA

[2] Univ Maine, Miller Sch Med, Dept Psychiat & Behav Sci, Miami, FL USA

[3] Sun Hlth Res Inst, Sun City, AZ USA

[4] Arizona Alzheimers Consortium, Phoenix, AZ USA

[5] NIA, Neurogenet Lab, NIH, Bethesda, MD USA

[6] Kronos Sci Labs, Phoenix, AZ USA

[7] Banner Alzheimers Inst, Phoenix, AZ USA

[8] Univ Arizona, Dept Psychiat, Tucson, AZ USA

[9] Royal Dutch Acad Sci, Amsterdam, Netherlands

[10] Univ Zurich, Dept Psychiat Res, Zurich, Switzerland

来源：

NEURODEGENERATIVE DISEASES | 2008年 / 5卷 / 02期

基金：

英国医学研究理事会;

关键词：

Sorl1; Alzheimer's disease; predisposition gene; APOE gene; sortilin-related receptor;

D O I：

10.1159/000110789

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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) epsilon 4 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. Copyright (C) 2007 S. Karger AG, Basel.

引用

页码：60 / 64

页数：5

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