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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.
Afiliación
  • Mok KY; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK; Reta Lila Weston Institute, UCL Institute of Neurology, London, UK. Electronic address: k.mok@ucl.ac.uk.
  • Jones EL; Wolfson Centre for Age-Related Diseases, King's College London, London, UK.
  • Hanney M; Northgate Hospital, Morpeth, Northumberland, UK.
  • Harold D; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Henry Wellcome Building for Biomedical Research, Heath Park, Cardiff, UK.
  • Sims R; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Henry Wellcome Building for Biomedical Research, Heath Park, Cardiff, UK.
  • Williams J; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Henry Wellcome Building for Biomedical Research, Heath Park, Cardiff, UK.
  • Ballard C; Wolfson Centre for Age-Related Diseases, King's College London, London, UK.
  • Hardy J; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK; Reta Lila Weston Institute, UCL Institute of Neurology, London, UK; The London Down Syndrome (LonDownS) Consortium, UK.
Neurobiol Aging ; 35(6): 1513.e1-5, 2014 06.
Article en En | MEDLINE | ID: mdl-24462566
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ácido Aspártico Endopeptidasas / Síndrome de Down / Polimorfismo de Nucleótido Simple / Secretasas de la Proteína Precursora del Amiloide / Estudios de Asociación Genética / Enfermedad de Alzheimer Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Neurobiol Aging Año: 2014 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ácido Aspártico Endopeptidasas / Síndrome de Down / Polimorfismo de Nucleótido Simple / Secretasas de la Proteína Precursora del Amiloide / Estudios de Asociación Genética / Enfermedad de Alzheimer Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Neurobiol Aging Año: 2014 Tipo del documento: Article