Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 3 complete abstracts (476 words), 9 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
An analysis comparing the allele frequencies of all available (or a whole genome representative set of) polymorphic markers to identify gene candidates or quantitative trait loci associated with a specific organism trait or specific disease or condition.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Association Studies, Genome-Wide; Association Study, Genome-Wide; Genome-Wide Association Studies; Studies, Genome-Wide Association; Study, Genome-Wide Association; Genome Wide Association Analysis; Whole Genome Association Analysis; Genome Wide Association Study.
Where it fits in the MeSH classification
- Broader topics
- Epidemiologic Research Design; Molecular Epidemiology; Genetic Association Studies; Oligonucleotide Array Sequence Analysis
- See also
- Genotyping Techniques
Related concepts
Research landscape
PubMed indexes 59,749 records tagged with the MeSH heading “Genome-Wide Association Study” (counts retrieved 2026-10-29). 30,513 of them (51.1%) were published from 2020 onward, and the busiest period so far is 2020 onward with 30,513 records.
Reviews account for 9,977 records (16.7%) and meta-analyses for 3,672. Randomized controlled trials number 264 (0.4%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 0 |
| 2000-2009 | 2,031 |
| 2010-2019 | 27,954 |
| 2020 onward | 30,513 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 9,977 | 16.7% |
| Meta-analyses | 3,672 | 6.1% |
| Randomized controlled trials | 264 | 0.4% |
Method: PubMed query "Genome-Wide Association Study"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in genetics and genomics
Genetic findings vary widely in strength. A variant linked to a condition in one study may not replicate in other ancestries, and most common variants have small effects that are meaningful only in aggregate. Studies of rare, high-impact variants can support strong causal claims about a gene, while association studies describe statistical links that need functional and independent replication. Check the sample size, the ancestry of participants, whether results were replicated, and whether a laboratory or clinical outcome was actually measured.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Genome-wide association study of major anxiety disorders in 122,341 European-ancestry cases identifies 58 loci and highlights GABAergic signaling | 2026 | Meta-analysis Design not recorded in structured metadata | 50 | cc by PMID 41634414 · DOI · PMC12900644 |
| Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementias | 2026 | Meta-analysis Design not recorded in structured metadata | 14 | cc by PMID 42237039 · DOI · PMC13263136 |
| A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform | 2025 | Research article Design not recorded in structured metadata | 12 | cc by PMID 41310232 · DOI · PMC12695657 |
Genome-wide association study of major anxiety disorders in 122,341 European-ancestry cases identifies 58 loci and highlights GABAergic signaling [1]
Abstract reading summary — source excerpts
- Opening excerpt
- The major anxiety disorders (ANX; including generalized anxiety disorder, panic disorder and phobias) are highly prevalent, often onset early and cause substantial global disability.
- Closing excerpt
- These results advance our understanding of the genetic architecture of ANX and prioritize genes for functional follow-up studies.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (149 words)
The major anxiety disorders (ANX; including generalized anxiety disorder, panic disorder and phobias) are highly prevalent, often onset early and cause substantial global disability. Although distinct in their clinical presentations, they probably represent differential expressions of a dysregulated threat-response system. Here, we present a genome-wide association meta-analysis comprising 122,341 European ancestry ANX cases and 729,881 controls. We identified 58 independent genome-wide significant risk variants and 66 genes with robust biological support. In an independent sample of 1,175,012 self-report ANX cases and 1,956,379 controls, 51 out of the 58 associations replicated. As predicted by twin studies, we found substantial genetic correlation between ANX and depression, neuroticism and other internalizing phenotypes. Follow-up analyses demonstrated enrichment in all major brain regions and highlighted GABAergic signaling as one potential mechanism implicated in ANX genetic risk. These results advance our understanding of the genetic architecture of ANX and prioritize genes for functional follow-up studies.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41634414 · DOI · PMC12900644
Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementias [2]
Abstract reading summary — source excerpts
- Opening excerpt
- To better characterize the genetic architecture underlying Alzheimer's disease (AD) and related dementias (ADRD), we performed a meta-analysis of European-ancestry genome-wide association studies in 128,681 cases or proxy cases of ADRD and 849,833 (proxy) controls.
- Closing excerpt
- In conclusion, our study validated a large number of loci associated with the risk of clinically diagnosed AD, while further investigations are required to confirm the impact of the other loci on AD clinical diagnosis and of each locus on AD pathology.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (174 words)
To better characterize the genetic architecture underlying Alzheimer's disease (AD) and related dementias (ADRD), we performed a meta-analysis of European-ancestry genome-wide association studies in 128,681 cases or proxy cases of ADRD and 849,833 (proxy) controls. We identified 91 genetic loci associated with ADRD risk, of which 16 are new and 56 are specifically detected in clinically diagnosed AD cases. We also provide a list of 18 loci (15 new) requiring further external validation. A polygenic score combining the effects of ADRD loci other than APOE was primarily associated with AD rather than non-AD pathology. Individuals in the tenth decile of the score exhibited a twofold increased risk of presenting with Braak neurofibrillary tangles stage of >4 and moderate-to-severe neuritic amyloid plaque pathology at death compared to individuals in the median score group. In conclusion, our study validated a large number of loci associated with the risk of clinically diagnosed AD, while further investigations are required to confirm the impact of the other loci on AD clinical diagnosis and of each locus on AD pathology.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42237039 · DOI · PMC13263136
A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Most studies to date of protein quantitative trait loci (pQTLs) have relied on affinity proteomics platforms, which provide only limited information about the targeted protein isoforms and may be affected by genetic variation in their epitope binding.
- Closing excerpt
- We found that >30% of the evaluated pQTLs were confirmed by MS proteomics to be consistent with the hypothesis that genetic variants induce changes in protein abundance, whereas another 30% could not be replicated and are possibly due to epitope effects, although alternative explanations for nonreplication need to be considered on a case-by-case basis.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (153 words)
Most studies to date of protein quantitative trait loci (pQTLs) have relied on affinity proteomics platforms, which provide only limited information about the targeted protein isoforms and may be affected by genetic variation in their epitope binding. Here we show that mass spectrometry (MS)-based proteomics can complement these studies and provide insights into the role of specific protein isoform and epitope-altering variants. Using the Seer Proteograph nanoparticle enrichment MS platform, we identified and replicated new pQTLs in a genome-wide association study of proteins in blood plasma samples from two cohorts and evaluated previously reported pQTLs from affinity proteomics platforms. We found that >30% of the evaluated pQTLs were confirmed by MS proteomics to be consistent with the hypothesis that genetic variants induce changes in protein abundance, whereas another 30% could not be replicated and are possibly due to epitope effects, although alternative explanations for nonreplication need to be considered on a case-by-case basis.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41310232 · DOI · PMC12695657
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology [4]
- Research article The power of genetic diversity in genome-wide association studies of lipids [5]
- Research article Mapping the human genetic architecture of COVID-19 [6]
- Research article Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains [7]
- Research article Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation [8]
- Research article Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology [9]
References
- Strom NI, Verhulst B, Bacanu SA, Cheesman R, Purves KL, Gedik H, et al.. Genome-wide association study of major anxiety disorders in 122,341 European-ancestry cases identifies 58 loci and highlights GABAergic signaling. . 2026. PMID 41634414 · DOI · PMC12900644
- EADB, EADI, Bonn, ADGC, CHARGE, FinnGen, et al.. Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementias. . 2026. PMID 42237039 · DOI · PMC13263136
- Suhre K, Chen Q, Halama A, Mendez K, Dahlin A, Stephan N, et al.. A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform. . 2025. PMID 41310232 · DOI · PMC12695657
- Mullins N, Forstner AJ, O'Connell KS, Coombes B, Coleman JRI, Qiao Z, et al.. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. Nat Genet. 2021. PMID 34002096 · DOI · PMC8192451
- Graham SE, Clarke SL, Wu KH, Kanoni S, Zajac GJM, Ramdas S, et al.. The power of genetic diversity in genome-wide association studies of lipids. Nature. 2021. PMID 34887591 · DOI · PMC8730582
- COVID-19 Host Genetics Initiative. Mapping the human genetic architecture of COVID-19. Nature. 2021. PMID 34237774 · DOI · PMC8674144
- Demontis D, Walters GB, Athanasiadis G, Walters R, Therrien K, Nielsen TT, et al.. Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains. Nat Genet. 2023. PMID 36702997 · DOI · PMC10914347
- Mahajan A, Spracklen CN, Zhang W, Ng MCY, Petty LE, Kitajima H, et al.. Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation. Nat Genet. 2022. PMID 35551307 · DOI · PMC9179018
- van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, et al.. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nat Genet. 2021. PMID 34873335 · DOI · PMC8648564
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.