Logue Mark W, Dasgupta Shoumita, Farrer Lindsay A
National Center for PTSD, Behavioral Sciences Division, VA Boston Healthcare System, Boston, MA 02130, USA.
Department of Psychiatry, Boston University Chobanian & Avedisian School of Medicine, Boston, MA 02118, USA.
J Clin Med. 2023 Aug 9;12(16):5189. doi: 10.3390/jcm12165189.
Black/African American (AA) individuals have a higher risk of Alzheimer's disease (AD) than White non-Hispanic persons of European ancestry (EUR) for reasons that may include economic disparities, cardiovascular health, quality of education, and biases in the methods used to diagnose AD. AD is also heritable, and some of the differences in risk may be due to genetics. Many AD-associated variants have been identified by candidate gene studies, genome-wide association studies (GWAS), and genome-sequencing studies. However, most of these studies have been performed using EUR cohorts. In this paper, we review the genetics of AD and AD-related traits in AA individuals. Importantly, studies of genetic risk factors in AA cohorts can elucidate the molecular mechanisms underlying AD risk in AA and other populations. In fact, such studies are essential to enable reliable precision medicine approaches in persons with considerable African ancestry. Furthermore, genetic studies of AA cohorts allow exploration of the ways the impact of genes can vary by ancestry, culture, and economic and environmental disparities. They have yielded important gains in our knowledge of AD genetics, and increasing AA individual representation within genetic studies should remain a priority for inclusive genetic study design.
黑人/非裔美国人(AA)患阿尔茨海默病(AD)的风险高于欧洲血统的非西班牙裔白人(EUR),原因可能包括经济差距、心血管健康、教育质量以及AD诊断方法中的偏差。AD也是可遗传的,风险差异的部分原因可能在于基因。通过候选基因研究、全基因组关联研究(GWAS)和基因组测序研究,已经确定了许多与AD相关的变异。然而,这些研究大多是使用EUR队列进行的。在本文中,我们综述了AA个体中AD及AD相关性状的遗传学。重要的是,对AA队列中遗传风险因素的研究可以阐明AA和其他人群中AD风险的分子机制。事实上,此类研究对于在有相当非洲血统的人群中实现可靠的精准医学方法至关重要。此外,对AA队列的基因研究可以探索基因影响因血统、文化以及经济和环境差异而有所不同的方式。它们在我们对AD遗传学的认识上取得了重要进展,在基因研究中增加AA个体的代表性仍应是包容性基因研究设计的优先事项。