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

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...

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Autores principales: Mok, Kin Y., Jones, Emma L., Hanney, Marisa, Harold, Denise, Sims, Rebecca, Williams, Julie, Ballard, Clive, Hardy, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Genetic Report Abstract
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3969241/
https://www.ncbi.nlm.nih.gov/pubmed/24462566
http://dx.doi.org/10.1016/j.neurobiolaging.2013.12.022
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author Mok, Kin Y.
Jones, Emma L.
Hanney, Marisa
Harold, Denise
Sims, Rebecca
Williams, Julie
Ballard, Clive
Hardy, John
author_facet Mok, Kin Y.
Jones, Emma L.
Hanney, Marisa
Harold, Denise
Sims, Rebecca
Williams, Julie
Ballard, Clive
Hardy, John
author_sort Mok, Kin Y.
collection PubMed
description 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.
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spelling pubmed-39692412014-06-01 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 Williams, Julie Ballard, Clive Hardy, John Neurobiol Aging Genetic Report 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. Elsevier 2014-06 /pmc/articles/PMC3969241/ /pubmed/24462566 http://dx.doi.org/10.1016/j.neurobiolaging.2013.12.022 Text en © 2014 The Authors http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetic Report Abstract
Mok, Kin Y.
Jones, Emma L.
Hanney, Marisa
Harold, Denise
Sims, Rebecca
Williams, Julie
Ballard, Clive
Hardy, John
Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome()
title Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome()
title_full Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome()
title_fullStr Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome()
title_full_unstemmed Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome()
title_short Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome()
title_sort polymorphisms in bace2 may affect the age of onset alzheimer's dementia in down syndrome()
topic Genetic Report Abstract
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3969241/
https://www.ncbi.nlm.nih.gov/pubmed/24462566
http://dx.doi.org/10.1016/j.neurobiolaging.2013.12.022
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