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

Jones, Emma L., Mok, Kin, Hanney, Marisa, Harold, Denise, Sims, Rebecca ORCID: https://orcid.org/0000-0002-3885-1199, Williams, Julie ORCID: https://orcid.org/0000-0002-4069-0259 and Ballard, Clive 2013. Evidence that PICALM affects age at onset of Alzheimer's dementia in Down syndrome. Neurobiology of Aging 34 (10) , p. 2441. 10.1016/j.neurobiolaging.2013.03.018

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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.

Item Type: Article
Status: Published
Schools: Medicine
Systems Immunity Research Institute (SIURI)
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: R Medicine > R Medicine (General)
Publisher: Elsevier
ISSN: 0197-4580
Last Modified: 28 Oct 2022 09:47
URI: https://orca.cardiff.ac.uk/id/eprint/75719

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