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Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome

Mok, KY; Hardy, J; Jones, EL; Ballard, C; Hanney, M; Harold, D; Sims, R; (2014) Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome. Neurobiology of Aging , 35 (6) 1513.e1-1513.e5. 10.1016/j.neurobiolaging.2013.12.022. Green open access

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Abstract

It is known that Alzheimer's disease (AD) presents at an early age in people with Down syndrome (DS). The trisomy 21 in DS provides an opportunity to study the effect of duplicated genes in AD. APP and BACE2 are 2 genes located in chromosome 21 and related to AD. We looked into our cohort of 67 DS cases with dementia for the effect of BACE2 variants in age of onset of dementia. Of the 83 single-nucleotide polymorphisms (SNPs), 6 were associated with age of onset and another 8 SNPs were borderline associated. Our finding also replicated a previous study showing association of rs2252576 with AD. © 2014 The Authors.

Type: Article
Title: Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.neurobiolaging.2013.12.022
Publisher version: http://dx.doi.org/10.1016/j.neurobiolaging.2013.12...
Additional information: ©� 2014 The Authors. Published by Elsevier Inc. All rights reserved. This is an open access article under the CC BY license (http:// creativecommons.org/licenses/by/3.0/).
Keywords: Down syndrome; BACE2; Alzheimer's disease; rs2252576;
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1433902
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