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 (497 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
Specific regions that are mapped within a genome. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of chromosome 6. Many well known genetic loci are also known by common names that are associated with a genetic function or hereditary disease.
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: Loci, Genetic; Locus, Genetic; Genetic Locus.
Where it fits in the MeSH classification
- Broader topics
- Genome Components
- Narrower topics
- Achaete-Scute Complex Genome Region; Locus Control Region; Major Histocompatibility Complex; Minor Histocompatibility Loci; Minor Lymphocyte Stimulatory Loci; Nucleolus Organizer Region; Pseudoautosomal Regions; Quantitative Trait Loci; t-Complex Genome Region
Related concepts
- Genome
- Chromosomes
- Hereditary Disease
Research landscape
PubMed indexes 69,508 records tagged with the MeSH heading “Genetic Loci” (counts retrieved 2026-10-29). 12,815 of them (18.4%) were published from 2020 onward, and the busiest period so far is 2010-2019 with 27,283 records.
Reviews account for 7,711 records (11.1%) and meta-analyses for 1,074. Randomized controlled trials number 89 (0.1%) 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 | 16,065 |
| 2000-2009 | 13,345 |
| 2010-2019 | 27,283 |
| 2020 onward | 12,815 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 7,711 | 11.1% |
| Meta-analyses | 1,074 | 1.5% |
| Randomized controlled trials | 89 | 0.1% |
Method: PubMed query "Genetic Loci"[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 |
|---|---|---|---|---|
| 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 |
| Cell-type-resolved genetic variation shapes inflammatory bowel disease risk | 2026 | Research article Design not recorded in structured metadata | 11 | cc by PMID 42236949 · DOI · PMC13441992 |
| Chromatin accessibility variation provides insights into missing regulation underlying immune-mediated diseases | 2025 | Research article Design not recorded in structured metadata | 10 | cc by PMID 41396161 · DOI · PMC12705069 |
A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform [1]
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
Cell-type-resolved genetic variation shapes inflammatory bowel disease risk [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Most genetic variants associated with complex diseases lie in non-coding regions1, complicating efforts to identify effector genes and relevant cell types.
- Closing excerpt
- Our results provide a mechanistic map that links genetic risk to specific genes and cell types in IBD, and a generalized framework for interpretation of GWAS loci using single-cell eQTL mapping of disease-relevant tissues in complex diseases.
- 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 (177 words)
Most genetic variants associated with complex diseases lie in non-coding regions1, complicating efforts to identify effector genes and relevant cell types. Here we map cis-expression quantitative trait loci (eQTLs) across 2.2 million single cells using intestinal biopsies and blood from 421 individuals, including 125 with inflammatory bowel disease (IBD). Cell-type-level eQTLs were more distal to transcription start sites, enriched in enhancers, less likely to regulate the nearest gene, and more than 3.5-fold more likely to colocalize with IBD loci detected in genome-wide association studies (GWASs) than eQTLs detected at tissue-level resolution. We nominate effector genes at more than half of known IBD loci, including MAML2, PSEN2 and ZMIZ1 in myeloid cells, implicating reduced Notch signalling in intestinal immune dysfunction. We also identify Wnt-regulated genes, including MYC, in epithelial stem and progenitor cells, suggesting that impaired renewal contributes to barrier breakdown. Our results provide a mechanistic map that links genetic risk to specific genes and cell types in IBD, and a generalized framework for interpretation of GWAS loci using single-cell eQTL mapping of disease-relevant tissues in complex diseases.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42236949 · DOI · PMC13441992
Chromatin accessibility variation provides insights into missing regulation underlying immune-mediated diseases [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Most genetic loci associated with complex traits and diseases through genome-wide association studies (GWAS) are noncoding, suggesting that the causal variants likely have gene regulatory effects.
- Closing excerpt
- Altogether, insufficient power and context specificity of eQTLs both contribute to the 'missing regulation'.
- 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 (167 words)
Most genetic loci associated with complex traits and diseases through genome-wide association studies (GWAS) are noncoding, suggesting that the causal variants likely have gene regulatory effects. However, only a small number of loci have been linked to expression quantitative trait loci (eQTLs) detected currently. To better understand the potential reasons for many trait-associated loci lacking eQTL colocalization, we investigated whether chromatin accessibility QTLs (caQTLs) in lymphoblastoid cell lines (LCLs) explain immune-mediated disease associations that eQTLs in LCLs did not. The power to detect caQTLs was greater than that of eQTLs and was less affected by the distance from the transcription start site of the associated gene. Meta-analyzing LCL eQTL data to increase the sample size to over a thousand led to additional loci with eQTL colocalization, demonstrating that insufficient statistical power is still likely to be a factor. Moreover, further eQTL colocalization loci were uncovered by surveying eQTLs of other immune cell types. Altogether, insufficient power and context specificity of eQTLs both contribute to the 'missing regulation'.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41396161 · DOI · PMC12705069
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 Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease [4]
- Research article Biological, clinical and population relevance of 95 loci for blood lipids [5]
- Research article Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing [6]
- Research article Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies [7]
- Research article Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk [8]
- Research article Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry [9]
References
- 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
- Alegbe T, Harris BT, Fachal L, Ramirez-Navarro L, Tutert M, Krzak M, et al.. Cell-type-resolved genetic variation shapes inflammatory bowel disease risk. . 2026. PMID 42236949 · DOI · PMC13441992
- Jeong R, Bulyk ML. Chromatin accessibility variation provides insights into missing regulation underlying immune-mediated diseases. . 2025. PMID 41396161 · DOI · PMC12705069
- Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, et al.. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet. 2013. PMID 24162737 · DOI · PMC3896259
- Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, et al.. Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 2010. PMID 20686565 · DOI · PMC3039276
- Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, et al.. Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nat Genet. 2019. PMID 30820047 · DOI · PMC6463297
- Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, et al.. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet Neurol. 2019. PMID 31701892 · DOI · PMC8422160
- Jansen IE, Savage JE, Watanabe K, Bryois J, Williams DM, Steinberg S, et al.. Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. Nat Genet. 2019. PMID 30617256 · DOI · PMC6836675
- Yengo L, Sidorenko J, Kemper KE, Zheng Z, Wood AR, Weedon MN, et al.. Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry. Hum Mol Genet. 2018. PMID 30124842 · DOI · PMC6488973
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.