Evidence that PICALM affects age at onset of Alzheimer's dementia in Down syndrome |
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| Authors: | Emma L Jones Kin Mok Marisa Hanney Denise Harold Rebecca Sims Julie Williams Clive Ballard |
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| Institution: | 1. Wolfson Centre for Age-Related Diseases, King’s College London, London, UK;2. Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK;3. MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Henry Wellcome Building for Biomedical Research, Heath Park, Cardiff, UK |
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| Abstract: | It is known that individuals with Down syndrome develop Alzheimer’s disease with an early age at onset, although associated genetic risk factors have not been widely studied. We tested whether genes that increase the risk of late-onset Alzheimer’s disease influence the age at onset in Down syndrome using genome-wide association data for age at onset of dementia in a small sample of individuals (N = 67) with Down syndrome. We tested for association with loci previously associated with Alzheimer’s disease risk and, despite the small size of the study, we detected associations with age at onset of Alzheimer’s disease in Down syndrome with PICALM (β = 3.31, p = 0.011) and the APOE loci (β = 3.58, p = 0.014). As dementia in people with Down syndrome is relatively understudied, we make all of these data publicly available to encourage further analyses of the problem of Alzheimer’s disease in Down syndrome. |
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| Keywords: | Genome-wide association study Down syndrome Alzheimer&rsquo s disease PICALM APOE |
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