{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T01:59:12Z","timestamp":1791597552637,"version":"4.3.4"},"reference-count":91,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,11,29]],"date-time":"2023-11-29T00:00:00Z","timestamp":1701216000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Aging Neurosci."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Thousands of research studies concerning genome-wide association studies (GWAS) in Alzheimer\u2019s 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The literature search terms are: (\u201cgenome-wide analysis\u201d or \u201cgenome-wide association study\u201d or \u201cwhole-genome analysis\u201d) AND (\u201cAlzheimer\u2019s Disease\u201d or \u201cAlzheimer Disease\u201d). 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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. <jats:italic>Neurobiology of Aging<\/jats:italic> was the journal with the highest number of publications. A\u03b2, tau, immunity, microglia and DNA methylation were research hotspots. Disease and causal variants were research fronts.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The most frequently studied AD pathogenesis and research hotspots are (1) A\u03b2 and tau, (2) immunity and microglia, with <jats:italic>TREM2<\/jats:italic> 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.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fnagi.2023.1290657","type":"journal-article","created":{"date-parts":[[2023,11,29]],"date-time":"2023-11-29T05:16:40Z","timestamp":1701235000000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":22,"title":["Genome-wide association study in Alzheimer\u2019s disease: a bibliometric and visualization analysis"],"prefix":"10.3389","volume":"15","author":[{"given":"Junyao","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yinuo","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingying","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junyan","family":"Yao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,11,29]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"1277","DOI":"10.1016\/j.jalz.2014.12.008","article-title":"Genetic risk of neurodegenerative diseases is associated with mild cognitive impairment and conversion to dementia","volume":"11","author":"Adams","year":"2015","journal-title":"Alzheimers Dement."},{"key":"ref2","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1016\/j.psychres.2018.12.134","article-title":"Relationship between Alzheimer's disease-associated Snps within the Clu gene, local Dna methylation and episodic verbal memory in healthy and schizophrenia subjects","volume":"272","author":"Alfimova","year":"2019","journal-title":"Psychiatry Res."},{"key":"ref3","doi-asserted-by":"publisher","first-page":"8740","DOI":"10.1093\/nar\/gky686","article-title":"Inferno: inferring the molecular mechanisms of noncoding genetic variants","volume":"46","author":"Amlie-Wolf","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"ref4","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1016\/S1474-4422(19)30435-1","article-title":"Interpretation of risk loci from genome-wide association studies of Alzheimer's disease","volume":"19","author":"Andrews","year":"2020","journal-title":"Lancet"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"104511","DOI":"10.1016\/j.ebiom.2023.104511","article-title":"The complex genetic architecture of Alzheimer's disease: novel insights and future directions","volume":"90","author":"Andrews","year":"2023","journal-title":"EBioMedicine"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"1598","DOI":"10.1002\/alz.13016","article-title":"2023 Alzheimer's disease facts and figures","volume":"19","year":"2023","journal-title":"Alzheimers Dement."},{"key":"ref7","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1001\/jamaneurol.2017.4198","article-title":"Associations of the top 20 Alzheimer Disease risk variants with brain amyloidosis","volume":"75","author":"Apostolova","year":"2018","journal-title":"JAMA Neurol."},{"key":"ref8","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1007\/s11910-020-01090-y","article-title":"Early-onset Alzheimer's Disease: what is missing in research?","volume":"21","author":"Ayodele","year":"2021","journal-title":"Curr. 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