Genome-wide association study in Alzheimer’s disease: a bibliometric and visualization analysis

Abstract

BackgroundThousands 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.MethodsThe 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.ResultsA 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. Neurobiology of Aging 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.ConclusionThe most frequently studied AD pathogenesis and research hotspots are (1) Aβ and tau, (2) immunity and microglia, with TREM2 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.

Top 100 most-cited articles on tau protein: a bibliometric analysis and evidence mapping

“… Fei et al (2022) found that “circular RNAs,” “regulation of neuroinflammation,” and “tau protein” were the future research directions of non-coding RNAs in AD. Other studies have indicated that tau protein is a keyword associated with glial fibrillary acidic protein (GFAP), mitochondrion, GWAS, and biomarkers in AD ( Noda et al, 2023 ; Song R. et al, 2023 ; Zhang J. et al, 2023 ; Zou et al, 2023 ). Neuroinflammation refers to the activation of immune responses within the CNS, specifically involving glial cells such as microglia and astrocytes.…”