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 Papassotiropoulos; John Hardy; Eric M. Reiman; Dietrich A. Stephan

doi:10.1159/000110789

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 journal › Article › peer-review

58 Scopus citations

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 language	English (US)
Pages (from-to)	60-64
Number of pages	5
Journal	Neurodegenerative Diseases
Volume	5
Issue number	2
DOIs	https://doi.org/10.1159/000110789
State	Published - Jan 2008
Externally published	Yes

Keywords

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

ASJC Scopus subject areas

Neurology
Clinical Neurology

Access to Document

10.1159/000110789

Cite this

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., ... Stephan, D. A. (2008). Sorl1 as an Alzheimer's disease predisposition gene? Neurodegenerative Diseases, 5(2), 60-64. https://doi.org/10.1159/000110789

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

@article{d541b4546aeb4b36961b2eda895e7156,

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 = "APOE gene, Alzheimer's disease, 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 = jan,

doi = "10.1159/000110789",

language = "English (US)",

volume = "5",

pages = "60--64",

journal = "Neurodegenerative Diseases",

issn = "1660-2854",