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

TY - JOUR

T1 - Evidence that PICALM affects age at onset of Alzheimer's dementia in Down syndrome

AU - Jones, Emma L.

AU - Mok, Kin

AU - Hanney, Marisa

AU - Harold, Denise

AU - Sims, Rebecca

AU - Williams, Julie

AU - Ballard, Clive

PY - 2013/10

Y1 - 2013/10

N2 - 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. 

AB - 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. 

KW - Genome-wide association study

KW - Down syndrome

KW - Alzheimer's disease

KW - PICALM

KW - APOE

KW - CEREBRAL AMYLOID ANGIOPATHY

KW - COMMON VARIANTS

KW - DISEASE

KW - ASSOCIATION

KW - DUPLICATION

KW - MORTALITY

KW - ALLELE

KW - PEOPLE

KW - ADULTS

KW - Acknowledged-BRU-13/14

KW - Acknowledged-BRU

KW - Acknowledged-BRC

U2 - 10.1016/j.neurobiolaging.2013.03.018

DO - 10.1016/j.neurobiolaging.2013.03.018

M3 - Article

SN - 0197-4580

VL - 34

SP - N/A

JO - Neurobiology of Aging

JF - Neurobiology of Aging

IS - 10

M1 - 2441.e1

ER -