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

作者信息

Zhang Junyao, Wang Yinuo, Zhang Yingying, Yao Junyan

机构信息

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.

出版信息

Front Aging Neurosci. 2023 Nov 29;15:1290657. doi: 10.3389/fnagi.2023.1290657. eCollection 2023.


DOI:10.3389/fnagi.2023.1290657
PMID:38094504
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10716290/
Abstract

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ff3/10716290/827dcd4b4593/fnagi-15-1290657-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ff3/10716290/a9f6f2dc1659/fnagi-15-1290657-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ff3/10716290/fa9b323682bd/fnagi-15-1290657-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ff3/10716290/c13bf69a36fb/fnagi-15-1290657-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ff3/10716290/68a0e7435760/fnagi-15-1290657-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ff3/10716290/5c436e8feb79/fnagi-15-1290657-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ff3/10716290/b411a28ae9d5/fnagi-15-1290657-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ff3/10716290/ee12c3f61303/fnagi-15-1290657-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ff3/10716290/827dcd4b4593/fnagi-15-1290657-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ff3/10716290/a9f6f2dc1659/fnagi-15-1290657-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ff3/10716290/fa9b323682bd/fnagi-15-1290657-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ff3/10716290/c13bf69a36fb/fnagi-15-1290657-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ff3/10716290/68a0e7435760/fnagi-15-1290657-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ff3/10716290/5c436e8feb79/fnagi-15-1290657-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ff3/10716290/b411a28ae9d5/fnagi-15-1290657-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ff3/10716290/ee12c3f61303/fnagi-15-1290657-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ff3/10716290/827dcd4b4593/fnagi-15-1290657-g008.jpg

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引用本文的文献

[1]
Novel Pathological Mechanisms Revealed by Spatial Transcriptomic Analysis of Hippocampus in Aged Control, Primary Age-Related Tauopathy, and Alzheimer's Disease.

Res Sq. 2025-8-22

[2]
The role of astrocytes in Alzheimer's disease: a bibliometric analysis.

Front Aging Neurosci. 2024-11-27

[3]
Alzheimer's Disease polygenic risk, the plasma proteome, and dementia incidence among UK older adults.

Geroscience. 2025-4

[4]
Dynamics of Cognitive Impairment in MCI Patients over a Three-Year Period: The Informative Role of Blood Biomarkers, Neuroimaging, and Genetic Factors.

Diagnostics (Basel). 2024-8-28

[5]
Top 100 most-cited articles on tau protein: a bibliometric analysis and evidence mapping.

Front Neurosci. 2024-1-31

本文引用的文献

[1]
A cell therapy approach to restore microglial Trem2 function in a mouse model of Alzheimer's disease.

Cell Stem Cell. 2023-10-5

[2]
Alzheimer's disease and related tauopathies: disorders of disrupted neuronal identity.

Trends Neurosci. 2023-10

[3]
Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases.

NPJ Parkinsons Dis. 2023-4-28

[4]
2023 Alzheimer's disease facts and figures.

Alzheimers Dement. 2023-4

[5]
The complex genetic architecture of Alzheimer's disease: novel insights and future directions.

EBioMedicine. 2023-4

[6]
A TREM2-activating antibody with a blood-brain barrier transport vehicle enhances microglial metabolism in Alzheimer's disease models.

Nat Neurosci. 2023-3

[7]
The DNA Methylation in Neurological Diseases.

Cells. 2022-10-31

[8]
Emerging roles of innate and adaptive immunity in Alzheimer's disease.

Immunity. 2022-12-13

[9]
Genome-wide association study of brain tau deposition as measured by F-flortaucipir positron emission tomography imaging.

Neurobiol Aging. 2022-12

[10]
A review of brain imaging biomarker genomics in Alzheimer's disease: implementation and perspectives.

Transl Neurodegener. 2022-9-15

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