临床前阿尔茨海默病中的多基因风险评分
Polygenic hazard scores in preclinical Alzheimer disease.
作者信息
Tan Chin Hong, Hyman Bradley T, Tan Jacinth J X, Hess Christopher P, Dillon William P, Schellenberg Gerard D, Besser Lilah M, Kukull Walter A, Kauppi Karolina, McEvoy Linda K, Andreassen Ole A, Dale Anders M, Fan Chun Chieh, Desikan Rahul S
机构信息
Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA.
Department of Neurology, Massachusetts General Hospital, Boston, MA.
出版信息
Ann Neurol. 2017 Sep;82(3):484-488. doi: 10.1002/ana.25029.
Identifying asymptomatic older individuals at elevated risk for developing Alzheimer disease (AD) is of clinical importance. Among 1,081 asymptomatic older adults, a recently validated polygenic hazard score (PHS) significantly predicted time to AD dementia and steeper longitudinal cognitive decline, even after controlling for APOE ɛ4 carrier status. Older individuals in the highest PHS percentiles showed the highest AD incidence rates. PHS predicted longitudinal clinical decline among older individuals with moderate to high Consortium to Establish a Registry for Alzheimer's Disease (amyloid) and Braak (tau) scores at autopsy, even among APOE ɛ4 noncarriers. Beyond APOE, PHS may help identify asymptomatic individuals at highest risk for developing Alzheimer neurodegeneration. Ann Neurol 2017;82:484-488.
识别患阿尔茨海默病（AD）风险升高的无症状老年人具有临床重要性。在1081名无症状老年人中，一种最近经过验证的多基因风险评分（PHS）显著预测了AD痴呆的发生时间以及更陡峭的纵向认知衰退，即使在控制了APOE ε4携带者状态之后也是如此。处于最高PHS百分位数的老年人显示出最高的AD发病率。PHS预测了尸检时阿尔茨海默病注册协会（淀粉样蛋白）和Braak（tau）评分中到高的无症状老年人的纵向临床衰退，即使在APOE ε4非携带者中也是如此。除了APOE之外，PHS可能有助于识别发生阿尔茨海默神经退行性变风险最高的无症状个体。《神经病学纪事》2017年；82:484 - 488。
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