Reitz Christiane, Mayeux Richard
Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York; Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York; Gertrude H. Sergievsky Center, College of Physicians and Surgeons.
Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York; Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York; Gertrude H. Sergievsky Center, College of Physicians and Surgeons; Department of Epidemiology, Joseph P. Mailman School of Public Health, Columbia University, New York, New York; Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York.
Biol Psychiatry. 2014 Apr 1;75(7):534-41. doi: 10.1016/j.biopsych.2013.06.003. Epub 2013 Jul 25.
Late-onset Alzheimer's disease (LOAD), which is characterized by progressive deterioration in cognition, function, and behavior, is the most common cause of dementia and the sixth leading cause of all deaths, placing a considerable burden on Western societies. Most studies aiming to identify genetic susceptibility factors for LOAD have focused on non-Hispanic white populations. This is, in part related to differences in linkage disequilibrium and allele frequencies between ethnic groups that could lead to confounding. However, in addition, non-Hispanic white populations are simply more widely studied. As a consequence, minorities are genetically underrepresented despite the fact that in several minority populations living in the same community as whites (including African American and Caribbean Hispanics), LOAD incidence is higher. This review summarizes the current knowledge on genetic risk factors associated with LOAD risk in Caribbean Hispanics and African Americans and provides suggestions for future research. We focus on Caribbean Hispanics and African Americans because they have a high LOAD incidence and a body of genetic studies on LOAD that is based on samples with genome-wide association studies data and reasonably large effect sizes to yield generalizable results.
晚发性阿尔茨海默病（LOAD）以认知、功能和行为的进行性恶化为特征，是痴呆症最常见的病因，也是所有死因中的第六大原因，给西方社会带来了相当大的负担。大多数旨在确定LOAD遗传易感性因素的研究都集中在非西班牙裔白人人群上。这在一定程度上与不同种族之间连锁不平衡和等位基因频率的差异有关，这些差异可能导致混淆。然而，此外，非西班牙裔白人人群只是被研究得更广泛。因此，尽管在与白人生活在同一社区的几个少数族裔群体（包括非裔美国人和加勒比西班牙裔）中LOAD发病率较高，但少数族裔在遗传学研究中的代表性不足。本综述总结了目前关于加勒比西班牙裔和非裔美国人中与LOAD风险相关的遗传风险因素的知识，并为未来研究提供了建议。我们关注加勒比西班牙裔和非裔美国人，因为他们的LOAD发病率较高，并且有一系列基于全基因组关联研究数据样本和合理大效应量的LOAD遗传学研究，能够得出可推广的结果。
