Zhang Junyao, Wang Yinuo, Zhang Yingying, Yao Junyan
Department of Anesthesiology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Department of Anesthesiology and Critical Care Medicine, Shanghai East Hospital, Tongji University School of Medicine, Shanghai, China.
Front Aging Neurosci. 2023 Nov 29;15:1290657. doi: 10.3389/fnagi.2023.1290657. eCollection 2023.
Thousands of research studies concerning genome-wide association studies (GWAS) in Alzheimer's disease (AD) have been published in the last decades. However, a comprehensive understanding of the current research status and future development trends of GWAS in AD have not been clearly shown. In this study, we tried to gain a systematic overview of GWAS in AD by bibliometric and visualization analysis.
The literature search terms are: ("genome-wide analysis" or "genome-wide association study" or "whole-genome analysis") AND ("Alzheimer's Disease" or "Alzheimer Disease"). Relevant publications were extracted from the Web of Science Core Collection (WoSCC) database. Collected data were further analyzed using VOSviewer, CiteSpace and R package Bibliometrix. The countries, institutions, authors and scholar collaborations were investigated. The co-citation analysis of publications was visualized. In addition, research hotspots and fronts were examined.
A total of 1,350 publications with 59,818 citations were identified. The number of publications and citations presented a significant rising trend since 2013. The United States was the leading country with an overwhelming number of publications (775) and citations (42,237). The University of Washington and Harvard University were the most prolific institutions with 101 publications each. Bennett DA was the most influential researcher with the highest local H-index. was the journal with the highest number of publications. Aβ, tau, immunity, microglia and DNA methylation were research hotspots. Disease and causal variants were research fronts.
The most frequently studied AD pathogenesis and research hotspots are (1) Aβ and tau, (2) immunity and microglia, with as a potential immunotherapy target, and (3) DNA methylation. The research fronts are (1) looking for genetic similarities between AD and other neurological diseases and syndromes, and (2) searching for causal variants of AD. These hotspots suggest noteworthy directions for future studies on AD pathogenesis and genetics, in which basic research regarding immunity is promising for clinical conversion. The current under-researched directions are (1) GWAS in AD biomarkers based on large sample sizes, (2) studies of causal variants of AD, and (3) GWAS in AD based on non-European populations, which need to be strengthened in the future.
在过去几十年里，已经发表了数千项关于阿尔茨海默病（AD）全基因组关联研究（GWAS）的研究。然而，目前尚未清楚地展示对AD中GWAS的当前研究现状和未来发展趋势的全面理解。在本研究中，我们试图通过文献计量学和可视化分析对AD中的GWAS进行系统概述。
文献检索词为：（“全基因组分析”或“全基因组关联研究”或“全基因组分析”）AND（“阿尔茨海默病”或“阿尔茨海默病”）。从Web of Science核心合集（WoSCC）数据库中提取相关出版物。使用VOSviewer、CiteSpace和R包Bibliometrix对收集到的数据进行进一步分析。调查了国家、机构、作者和学者合作情况。对出版物的共被引分析进行了可视化。此外，还研究了研究热点和前沿。
共鉴定出1350篇出版物，被引次数为59818次。自2013年以来，出版物数量和被引次数呈显著上升趋势。美国是领先国家，出版物数量（775篇）和被引次数（42237次）压倒性领先。华盛顿大学和哈佛大学是产量最高的机构，各有101篇出版物。贝内特·DA是最有影响力的研究人员，局部H指数最高。 是出版物数量最多的期刊。Aβ、tau、免疫、小胶质细胞和DNA甲基化是研究热点。疾病和因果变异是研究前沿。
最常研究的AD发病机制和研究热点是：（1）Aβ和tau；（2）免疫和小胶质细胞， 作为潜在的免疫治疗靶点；（3）DNA甲基化。研究前沿是：（1）寻找AD与其他神经疾病和综合征之间的遗传相似性；（2）寻找AD的因果变异。这些热点为未来AD发病机制和遗传学研究指明了值得关注的方向，其中关于免疫的基础研究有望实现临床转化。目前研究不足的方向是：（1）基于大样本量的AD生物标志物GWAS；（2）AD因果变异的研究；（3）基于非欧洲人群的AD GWAS，未来需要加强。
