Wolfson Centre for Age-Related Diseases, King's College London, London, UK.
Neurobiol Aging. 2013 Oct;34(10):2441.e1-5. doi: 10.1016/j.neurobiolaging.2013.03.018. Epub 2013 Apr 18.
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.
已知唐氏综合征患者的阿尔茨海默病发病年龄较早,但相关遗传风险因素尚未得到广泛研究。我们使用一小部分唐氏综合征患者(N=67)的痴呆发病年龄的全基因组关联数据,测试了是否增加晚发性阿尔茨海默病风险的基因会影响唐氏综合征的发病年龄。我们测试了与以前与阿尔茨海默病风险相关的基因座的关联,尽管研究规模较小,但我们检测到唐氏综合征患者的阿尔茨海默病发病年龄与 PICALM(β=3.31,p=0.011)和 APOE 基因座(β=3.58,p=0.014)存在关联。由于唐氏综合征患者的痴呆症相对研究较少,我们公开提供所有这些数据,以鼓励进一步分析唐氏综合征中阿尔茨海默病的问题。