Evidence that PICALM affects age at onset of Alzheimer's dementia in Down syndrome

NEUROBIOLOGY OF AGING

卷:34

Article

Jones, Emma L.¹  Mok, Kin^2,3  Hanney, Marisa¹  Harold, Denise⁴  Sims, Rebecca⁴  Williams, Julie⁴  Ballard, Clive¹ 

[1] Kings Coll London, Wolfson Ctr Age Related Dis, London SE1 1UL, England

[2] UCL Inst Neurol, Reta Lila Weston Labs, London, England

[3] UCL Inst Neurol, Dept Mol Neurosci, London, England

[4] Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Cardiff CF10 3AX, S Glam, Wales

关键词: Genome-wide association study;    Down syndrome;    Alzheimer's disease;    PICALM;    APOE;   

DOI  :  10.1016/j.neurobiolaging.2013.03.018

来源: Elsevier

【 摘 要 】

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 (beta = 3.31, p = 0.011) and the APOE loci (beta = 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. (c) 2013 Elsevier Inc. All rights reserved.

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