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 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.
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.
Kin Y
KY
Mok
Wolfson Centre for Age-Related Diseases, King's College London, London, UK.
Emma L
EL
Jones
Northgate Hospital, Morpeth, Northumberland, UK.
Marisa
M
Hanney
MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Henry Wellcome Building for Biomedical Research, Heath Park, Cardiff, UK.
Denise
D
Harold
MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Henry Wellcome Building for Biomedical Research, Heath Park, Cardiff, UK.
Rebecca
R
Sims
MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Henry Wellcome Building for Biomedical Research, Heath Park, Cardiff, UK.
Julie
J
Williams
Wolfson Centre for Age-Related Diseases, King's College London, London, UK.
Clive
C
Ballard
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.
John
J
Hardy
D017668:Age of Onset; D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics*; D053829:Amyloid Precursor Protein Secretases / Q000235:genetics*; D016282:Aspartic Acid Endopeptidases / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D015331:Cohort Studies; D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
D053829:Amyloid Precursor Protein Secretases; D016282:Aspartic Acid Endopeptidases; C509284:BACE2 protein, human
Alzheimer's disease; BACE2; Down syndrome; rs2252576