ArticleRNA (New York, N.Y.)2019
Identification of human genetic variants controlling circular RNA expression.
Article in RNA (New York, N.Y.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 30 citations in OpenAlex.
- A novel A-to-G mutation in circBDP1 alters adipocyte proliferation and differentiation and affects bovine carcass traits.Journal of Zhejiang University. Science. B · 2026Article
- Application of RNA markers in forensic body fluid analysis: from specificity and stability to polymorphism.International journal of legal medicine · 2026Review
- The rs34416841 polymorphism in the Alu element of the circSirt1 flanking intron is associated with an increased risk of myocardial infarction.BMC medical genomics · 2025Article
- Circular RNAs: novel noncoding players in male infertility.Hereditas · 2024Review
- An integrative pipeline for circular RNA quantitative trait locus discovery with application in human T cells.Bioinformatics (Oxford, England) · 2023Article
- Circular RNAs arising from synaptic host genes during human neuronal differentiation are modulated by SFPQ RNA-binding protein.BMC biology · 2023Article
- Review
- Genetic regulation of circular RNA expression in human aortic smooth muscle cells and vascular traits.HGG advances · 2023Article
- Evidence for correlations between BMI-associated SNPs and circRNAs.Scientific reports · 2022Article
- Review
- Inflammation-Related circRNA Polymorphism and Ischemic Stroke Prognosis.Journal of molecular neuroscience : MN · 2021Article
- CircRNAs as potent biomarkers in ovarian cancer: a systematic scoping review.Cellular & molecular biology letters · 2021Article
- Function of Circular RNAs in Fish and Their Potential Application as Biomarkers.International journal of molecular sciences · 2021Review
- circTAF8 Regulates Myoblast Development and Associated Carcass Traits in Chicken.Frontiers in genetics · 2021Article
- Insights Into the Role of CircRNAs: Biogenesis, Characterization, Functional, and Clinical Impact in Human Malignancies.Frontiers in cell and developmental biology · 2021Review
- circVAR database: genome-wide archive of genetic variants for human circular RNAs.BMC genomics · 2020Article
- Article
- Role of non-coding RNA networks in leukemia progression, metastasis and drug resistance.Molecular cancer · 2020Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Circular RNAs (circRNAs) are abundant in eukaryotic transcriptomes and have been linked to various human disorders. However, understanding genetic control of circular RNA expression is in the early stages. Here we present the first integrated analysis of circRNAs and genome sequence variation from lymphoblastoid cell lines of the 1000 Genomes Project. We identified thousands of circRNAs in the RNA-seq data and show their association with local single-nucleotide polymorphic sites, referred to as circQTLs, which influence the circRNA transcript abundance. Strikingly, we found that circQTLs exist independently of eQTLs with most circQTLs having no effect on mRNA expression. Only a fraction of the polymorphic sites are shared and linked to both circRNA and mRNA expression with mostly similar effects on circular and linear RNA. A shared intronic QTL, rs55928920, of HMSD gene drives the circular and linear expression in opposite directions, potentially modulating circRNA levels at the expense of mRNA. Finally, circQTLs and eQTLs are largely independent and exist in separate linkage disequilibrium (LD) blocks with circQTLs highly enriched for functional genomic elements and regulatory regions. This study reveals a previously uncharacterized role of DNA sequence variation in human circular RNA regulation.
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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.