Department of Neurology, Laboratory of Neurogenetics, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41100 Larissa, Greece.
Department of Rheumatology and Clinical Immunology, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41100 Larissa, Greece.
J Integr Neurosci. 2024 Sep 6;23(9):164. doi: 10.31083/j.jin2309164.
Alzheimer's Disease (AD) is a progressive neurodegenerative disease and the main cause of dementia. Its etiology remains largely unclear, though genetic and environmental factors appear to confer susceptibility to AD development. This study assessed the role of ATP-binding Cassette A Subfamily 7 () genetic polymorphisms, as ongoing research suggests they have a role in the development of AD. We conducted a PubMed, Google Scholar, and Scopus search to identify and assess all AD studies examining variants in different populations and ethnicities. The last search was conducted on February 8, 2023. Inclusion and exclusion criteria were applied and only the studies that met the inclusion criteria were included in this review. Seventeen studies were finally included. According to the results, variants infer different risks for AD among populations with different ancestries. African American populations show a higher risk for AD, carrying the five novel variants , , , , and . Asian populations also have an increased risk for AD, harboring three variants. genetic variability contributes to AD development and shows racial disparities. African American and Asian populations seem to be at greater risk of developing AD. These results may assist future research efforts for the early and accurate diagnosis of AD. Moreover, further exploration of the mechanisms of ABCA7 in the context of AD could identify potential therapeutic targets.
阿尔茨海默病（AD）是一种进行性神经退行性疾病，也是痴呆症的主要病因。尽管遗传和环境因素似乎使人们易患 AD，但该病的病因在很大程度上仍不清楚。本研究评估了 ATP 结合盒 A 亚家族 7（ABCA7）基因多态性的作用，因为现有研究表明其在 AD 发展中起作用。我们在 PubMed、Google Scholar 和 Scopus 上进行了检索，以确定和评估所有在不同人群和种族中研究 ABCA7 变异与 AD 关系的 AD 研究。最后一次检索是在 2023 年 2 月 8 日进行的。应用了纳入和排除标准，只有符合纳入标准的研究才被纳入本综述。最终纳入了 17 项研究。结果表明，不同祖源人群的 ABCA7 变异体预示着 AD 的不同风险。非裔美国人患 AD 的风险更高，携带 5 种新的变异体 、、、、和 。亚洲人群患 AD 的风险也增加，携带 3 种变异体 。ABCA7 基因多态性与 AD 的发生发展有关，并存在种族差异。非裔美国人和亚洲人群似乎有更高的 AD 发病风险。这些结果可能有助于 AD 的早期和准确诊断的未来研究工作。此外，进一步探索 ABCA7 在 AD 背景下的作用机制可能会确定潜在的治疗靶点。
