Journal
NEUROBIOLOGY OF AGING
Volume 35, Issue 6, Pages -Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2013.12.022
Keywords
Down syndrome; BACE2; Alzheimer's disease; rs2252576
Categories
Funding
- National Institute for Health Research Mental Health Biomedical Research Centre at South London
- Maudsley National Health Service Foundation Trust
- Medical Research Council
- Alzheimer's Society fellowship
- Henry Smith Charity [112]
- King's College London
- Wellcome Trust Strategic Grant Award [The London Down Syndrome (LonDownS) Consortium]
- MRC [G0902227, G0701075, MR/K013041/1] Funding Source: UKRI
- Alzheimers Research UK [ARUK-PG2014-1] Funding Source: researchfish
- Medical Research Council [MR/K013041/1, G0902227, MR/L501517/1, G0701075, MR/L010305/1] Funding Source: researchfish
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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. (C) 2014 The Authors. Published by Elsevier Inc. All rights reserved.
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