Neurobiol Aging. 2013 Oct;34(10):2441.e1-5.

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

Jones EL, Mok K, Hanney M, Harold D, Sims R, Williams J, Ballard C.

Wolfson Centre for Age-Related Diseases, King’s College London, London, UK. emma.3.jones@kcl.ac.uk

 

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 which 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 (n=67) of individuals with Down syndrome. We tested for association with loci previously associated with AD risk and despite the small size of the study, we detected association with age at onset at 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 these data publicly available to encourage further analyses of the problem of Alzheimer’s disease in Down syndrome. Copyright © 2013 Elsevier Inc.

KEYWORDS: APOE, Alzheimer’s disease, Down syndrome, Genome-wide association study, PICALM

PMID: 23601808

 

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