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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Detalles Bibliográficos
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
Descripción
Sumario: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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