ArticleHuman mutation2021
A Functional Variant on 9p21.3 Related to Glioma Risk Affects Enhancer Activity and Modulates Expression of CDKN2B-AS1.
Article in Human mutation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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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
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Multi-ancestry genome-wide association study of 4069 children with glioma identifies 9p21.3 risk locus.Neuro-oncology · 2023Pooled it
- Chromatin topology and distal elements underlie divergent cell-type-specific regulation of 9p21 locus cell cycle genes.Cell genomics · 2026Article
- Major Ethnic Populations Are Significantly Differentiated at the Glioblastoma Multiforme Candidate Loci.International journal of molecular sciences · 2026Article
- Genetic Insights into Peripheral Artery Disease: A Narrative Review.Biomedicines · 2025Review
- A MGMT Enhancer Variant is Associated with Glioma Susceptibility and Progression.Cellular and molecular neurobiology · 2025Article
- An explorative study on the interaction of cyclin-dependent kinase inhibitor 2B antisense RNA 1 (CDKN2B-AS1/ANRIL) gene polymorphism with obesity on periodontitis among Norwegian adults.Acta odontologica Scandinavica · 2025Article
- Disease-Associated Risk Variants and Expression Levels of the lncRNA, CDKN2B-AS1, Are Associated With the Progression of HCC.Journal of cellular and molecular medicine · 2025Article
- A risk variant for Barrett's esophagus and esophageal adenocarcinoma at chr8p23.1 affects enhancer activity and implicates multiple gene targets.Human molecular genetics · 2022Article
- Screening of potential novel candidate genes in schwannomatosis patients.Human mutation · 2022Article
- The synergistic effect ofAnnals of translational medicine · 2022Article
- Functional genomic analysis delineates regulatory mechanisms of GWAS-identified bipolar disorder risk variants.Genome medicine · 2022Article
- Functional genomics elucidates regulatory mechanisms of Parkinson's disease-associated variants.BMC medicine · 2022Article
- A Functional Variant on 9p21.3 Related to Glioma Risk Affects Enhancer Activity and Modulates Expression of CDKN2B-AS1.Human mutation · 2021Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
Genome-wide association studies have identified SNPs associated with glioma risk on 9p21.3, but biological mechanisms underlying this association are unknown. We tested the hypothesis that a functional SNP on 9p21.3 affects activity of an enhancer, causing altered expression of nearby genes. We considered all SNPs in linkage disequilibrium with the 9p21.3 sentinel SNP rs634537 that mapped to putative enhancers. An enhancer containing rs1537372 exhibited allele-specific effects on luciferase activity. Deletion of this enhancer in GBM cell lines correlated with decreased expression of CDKN2B-AS1. Expression quantitative trait loci analysis using non-diseased brain samples showed rs1537372 to be a consistently significant eQTL for CDKN2B-AS1. Additionally, our analysis of Hi-C data generated in neural progenitor cells showed that the bait region containing rs1537372 interacted with the CDKN2B-AS1 promoter. These data suggest rs1537372, a SNP at the 9p21.3 risk locus, is a functional variant that modulates expression of CDKN2B-AS1.
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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.