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 journalArticle

55 Citations (Scopus)

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) 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
Pages (from-to)60-64
Number of pages5
JournalNeurodegenerative Diseases
Volume5
Issue number2
DOIs
StatePublished - Jan 1 2008

Fingerprint

Alzheimer Disease
Genes
Alleles
Genetic Load
Apolipoprotein E4
Behavioral Symptoms
Disease Susceptibility
Apolipoproteins E
Neurodegenerative Diseases
Cognition
Genome
Mutation

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Webster, J. A., Myers, A. J., Pearson, J. V., Craig, D. W., Hu-Lince, D., Coon, K. D., ... Stephan, D. A. (2008). Sorl1 as an Alzheimer's disease predisposition gene? Neurodegenerative Diseases, 5(2), 60-64. https://doi.org/10.1159/000110789

Sorl1 as an Alzheimer's disease predisposition gene? / Webster, Jennifer A.; Myers, Amanda J; Pearson, John V.; Craig, David W.; Hu-Lince, Diane; Coon, Keith D.; Zismann, Victoria L.; Beach, Thomas; Leung, Doris; Bryden, Leslie; Halperin, Rebecca F.; Marlowe, Lauren; Kaleem, Mona; Huentelman, Matthew J.; Joshipura, Keta; Walker, Douglas; Heward, Christopher B.; Ravid, Rivka; Rogers, Joseph; Papassotiropoulos, Andreas; Hardy, John; Reiman, Eric M.; Stephan, Dietrich A.

In: Neurodegenerative Diseases, Vol. 5, No. 2, 01.01.2008, p. 60-64.

Research output: Contribution to journalArticle

Webster, JA, Myers, AJ, Pearson, JV, Craig, DW, Hu-Lince, D, Coon, KD, Zismann, VL, Beach, T, Leung, D, Bryden, L, Halperin, RF, Marlowe, L, Kaleem, M, Huentelman, MJ, Joshipura, K, Walker, D, Heward, CB, Ravid, R, Rogers, J, Papassotiropoulos, A, Hardy, J, Reiman, EM & Stephan, DA 2008, 'Sorl1 as an Alzheimer's disease predisposition gene?', Neurodegenerative Diseases, vol. 5, no. 2, pp. 60-64. https://doi.org/10.1159/000110789
Webster JA, Myers AJ, Pearson JV, Craig DW, Hu-Lince D, Coon KD et al. Sorl1 as an Alzheimer's disease predisposition gene? Neurodegenerative Diseases. 2008 Jan 1;5(2):60-64. https://doi.org/10.1159/000110789
Webster, Jennifer A. ; Myers, Amanda J ; Pearson, John V. ; Craig, David W. ; Hu-Lince, Diane ; Coon, Keith D. ; Zismann, Victoria L. ; Beach, Thomas ; Leung, Doris ; Bryden, Leslie ; Halperin, Rebecca F. ; Marlowe, Lauren ; Kaleem, Mona ; Huentelman, Matthew J. ; Joshipura, Keta ; Walker, Douglas ; Heward, Christopher B. ; Ravid, Rivka ; Rogers, Joseph ; Papassotiropoulos, Andreas ; Hardy, John ; Reiman, Eric M. ; Stephan, Dietrich A. / Sorl1 as an Alzheimer's disease predisposition gene?. In: Neurodegenerative Diseases. 2008 ; Vol. 5, No. 2. pp. 60-64.
@article{d57022e9e03f4a18aa43eb03ee0b9565,
title = "Sorl1 as an Alzheimer's disease predisposition gene?",
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) 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.",
keywords = "Alzheimer's disease, APOE gene, Predisposition gene, Sorl1, Sortilin-related receptor",
author = "Webster, {Jennifer A.} and Myers, {Amanda J} and Pearson, {John V.} and Craig, {David W.} and Diane Hu-Lince and Coon, {Keith D.} and Zismann, {Victoria L.} and Thomas Beach and Doris Leung and Leslie Bryden and Halperin, {Rebecca F.} and Lauren Marlowe and Mona Kaleem and Huentelman, {Matthew J.} and Keta Joshipura and Douglas Walker and Heward, {Christopher B.} and Rivka Ravid and Joseph Rogers and Andreas Papassotiropoulos and John Hardy and Reiman, {Eric M.} and Stephan, {Dietrich A.}",
year = "2008",
month = "1",
day = "1",
doi = "10.1159/000110789",
language = "English",
volume = "5",
pages = "60--64",
journal = "Neurodegenerative Diseases",
issn = "1660-2854",
publisher = "S. Karger AG",
number = "2",

}

TY - JOUR

T1 - Sorl1 as an Alzheimer's disease predisposition gene?

AU - Webster, Jennifer A.

AU - Myers, Amanda J

AU - Pearson, John V.

AU - Craig, David W.

AU - Hu-Lince, Diane

AU - Coon, Keith D.

AU - Zismann, Victoria L.

AU - Beach, Thomas

AU - Leung, Doris

AU - Bryden, Leslie

AU - Halperin, Rebecca F.

AU - Marlowe, Lauren

AU - Kaleem, Mona

AU - Huentelman, Matthew J.

AU - Joshipura, Keta

AU - Walker, Douglas

AU - Heward, Christopher B.

AU - Ravid, Rivka

AU - Rogers, Joseph

AU - Papassotiropoulos, Andreas

AU - Hardy, John

AU - Reiman, Eric M.

AU - Stephan, Dietrich A.

PY - 2008/1/1

Y1 - 2008/1/1

N2 - 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.

AB - 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.

KW - Alzheimer's disease

KW - APOE gene

KW - Predisposition gene

KW - Sorl1

KW - Sortilin-related receptor

UR - http://www.scopus.com/inward/record.url?scp=37849034999&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=37849034999&partnerID=8YFLogxK

U2 - 10.1159/000110789

DO - 10.1159/000110789

M3 - Article

C2 - 17975299

AN - SCOPUS:37849034999

VL - 5

SP - 60

EP - 64

JO - Neurodegenerative Diseases

JF - Neurodegenerative Diseases

SN - 1660-2854

IS - 2

ER -