ReviewInternational journal of molecular sciences2021
Regulatory SNPs: Altered Transcription Factor Binding Sites Implicated in Complex Traits and Diseases.
Review in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
56 citing papers in PubMed, 77 citations in OpenAlex.
- Association of Bilateral Vestibulopathy With theNeurology. Genetics · 2026Article
- UnlockingNAR genomics and bioinformatics · 2026Article
- Computational identification and characterization of high-risk human KRAS nsSNPs: Impacting structure, ligand binding, and cancer prognosis.Journal, genetic engineering & biotechnology · 2026Article
- Transcriptomic and regulatory landscape of liver tissue associated with meat and carcass quality traits in cattle.Journal of animal science and biotechnology · 2026Article
- The G→C rs590352 in the Protein-Coding Region of ATXN7L3B Gene Upregulates Its Expression In Vivo.Biochemical genetics · 2026Article
- SNPWay: streamlined SNP-to-function and pathway over-representation analysis.bioRxiv : the preprint server for biology · 2026Article
- From SNPs to pathways: a genome-wide benchmark of annotation discrepancies and their impact on protein- and pathway-level inference.BMC genomics · 2026Article
- From SNPs to Pathways: A genome-wide benchmark of annotation discrepancies and their impact on protein- and pathway-level inference.bioRxiv : the preprint server for biology · 2026Article
- Association BetweenBrain sciences · 2026Article
- Identification of SNPs in theInternational journal of molecular sciences · 2026Article
- Association of Glucose-Dependent Insulinotropic Polypeptide Receptor Polymorphisms rs3848460 and rs3895874 with the Risk of Gestational Diabetes Mellitus.Endocrine, metabolic & immune disorders drug targets · 2026Article
- Function of anti-müllerian hormone (AMH), gonadotropins and FSHR rs6166 genetic variant in the pathogenesis and diagnostic assessment of polycystic ovary syndrome.Journal of education and health promotion · 2026Article
- GWAS Identifies SNPs Associated With Severe Adverse Events and Efficacy in Advanced Renal Cell Carcinoma Treated With Nivolumab.Cancer science · 2025Article
- Pharmacoepigenomics in Personalized Medicine: A Hypothesis-Generating Approach to Introduce CpG-PGx SNPs as New Candidates for a Systematic Insight into Genomic-Epigenomic-Phenomic-Pharmacogenomics (G-E-Ph-PGx) Axis.Journal of personalized medicine · 2025Article
- A retrospective Case-Control study investigating the association of XPC Lys939Gln (rs2228001), XPD Lys751Gln (rs13181), and TP53 Arg72Pro (rs1042522) with papillary thyroid carcinoma susceptibility in the Bangladeshi population.Molecular biology reports · 2025Article
- Non-Coding RNA in Type 2 Diabetes Cardio-Renal Complications and SGLT2 Inhibitor Response.International journal of molecular sciences · 2025Review
- Genetic variants reshape the mScientific reports · 2025Article
- Mutational disruption of transcription factors binding and regulatory networks in a case of unexplained total fertilization failure.Journal of translational medicine · 2025Article
- Patient-Specific Regulatory Network Rewiring in Inflammatory Bowel Disease: How Genetic Polymorphisms Divert Incoming Signals and Contribute to Disease Pathogenesis.Inflammatory bowel diseases · 2025Article
- Transcription factors and candidate functional SNPs associated with variation in fatty acid composition from skeletal muscle of pigs.Animal genetics · 2025Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
The vast majority of the genetic variants (mainly SNPs) associated with various human traits and diseases map to a noncoding part of the genome and are enriched in its regulatory compartment, suggesting that many causal variants may affect gene expression. The leading mechanism of action of these SNPs consists in the alterations in the transcription factor binding via creation or disruption of transcription factor binding sites (TFBSs) or some change in the affinity of these regulatory proteins to their cognate sites. In this review, we first focus on the history of the discovery of regulatory SNPs (rSNPs) and systematized description of the existing methodical approaches to their study. Then, we brief the recent comprehensive examples of rSNPs studied from the discovery of the changes in the TFBS sequence as a result of a nucleotide substitution to identification of its effect on the target gene expression and, eventually, to phenotype. We also describe state-of-the-art genome-wide approaches to identification of regulatory variants, including both making molecular sense of genome-wide association studies (GWAS) and the alternative approaches the primary goal of which is to determine the functionality of genetic variants. Among these approaches, special attention is paid to expression quantitative trait loci (eQTLs) analysis and the search for allele-specific events in RNA-seq (ASE events) as well as in ChIP-seq, DNase-seq, and ATAC-seq (ASB events) data.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.