Alzheimer's disease risk genes and the age-at-onset phenotype

NEUROBIOLOGY OF AGING

卷:34

Article

Thambisetty, Madhav¹  An, Yang²  Tanaka, Toshiko³ 

[1] NIA, Clin & Translat Neurosci Unit, Lab Behav Neurosci, NIH, Baltimore, MD 21224 USA

[2] NIA, Lab Behav Neurosci, NIH, Baltimore, MD 21224 USA

[3] NIA, Translat Gerontol Branch, Longitudinal Studies Sect, NIH, Baltimore, MD 21224 USA

关键词: Alzheimer's disease;    Gene;    PICALM;    APOE;    Age at onset;    Risk;   

DOI  :  10.1016/j.neurobiolaging.2013.05.028

来源: Elsevier

【 摘 要 】

Despite the recent identification of several novel risk genes for Alzheimer's disease (AD), little is known about their influence on the age at onset (AAO) of AD. The AAO is a phenotype with a heritable component distinct from disease risk and may be a useful trait to study in the context of developing interventions for delaying the onset of AD. We studied the influence of 10 recently identified AD risk genes and APOE in relation to AAO in a large cohort of AD patients (N = 2569). We find that the novel AD risk gene, PICALM, exerts a small effect on the AAO of AD with earlier disease onset in risk allele carriers. In addition, we confirmed the previously reported association between the APOE epsilon 4 allele and earlier disease onset. None of the other AD risk genes influenced AAO of AD. Our results suggest that besides APOE, other genes associated with AD risk do not exert large effects on the AAO phenotype of AD. Published by Elsevier Inc.

【 授权许可】

Free