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

Mok, Kin Y., Jones, Emma L., Hanney, Marisa, Harold, Denise, Sims, Rebecca ORCID: https://orcid.org/0000-0002-3885-1199, Williams, Julie ORCID: https://orcid.org/0000-0002-4069-0259, Ballard, Clive and Hardy, John 2014. Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome. Neurobiology of Aging 35 (6) , 1513.e1-5. 10.1016/j.neurobiolaging.2013.12.022

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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

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine Neuroscience and Mental Health Research Institute (NMHRI) Systems Immunity Research Institute (SIURI)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Elsevier
ISSN:	0197-4580
Last Modified:	28 Oct 2022 09:45
URI:	https://orca.cardiff.ac.uk/id/eprint/75622

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