ArticleNature communications2016
Functional characterization of the 12p12.1 renal cancer-susceptibility locus implicates BHLHE41.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 4 of them syntheses that pooled it.
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Who cites it
30 citing papers in PubMed, 4 syntheses or guidelines pooled it, 40 citations in OpenAlex.
- Genetic landscape and functional exploration of kidney cancer predisposition in cross-ancestral populations.Nature communications · 2026Pooled it
- Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.Nature genetics · 2024Pooled it
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- Genome-wide association study identifies multiple risk loci for renal cell carcinoma.Nature communications · 2017Pooled it
- Deciphering genetic susceptibility to clear cell renal cell carcinoma.Communications biology · 2025Article
- Integrative multi-omic analysis identifies key transcription factors and target proteins in renal cell carcinoma and its subtypes.bioRxiv : the preprint server for biology · 2025Article
- Cell states and neighborhoods in distinct clinical stages of primary and metastatic esophageal adenocarcinoma.Cell reports. Medicine · 2025Article
- Medulloblastoma's master regulators and their association with patients' risk.Scientific reports · 2025Article
- BHLHE41, a transcriptional repressor involved in physiological processes and tumor development.Cellular oncology (Dordrecht, Netherlands) · 2025Review
- Network modeling links kidney developmental programs and the cancer type-specificity of VHL mutations.NPJ systems biology and applications · 2024Article
- Approach to Functions ofInternational journal of molecular sciences · 2023Review
- Prediction of Distant Metastases in Patients with Kidney Cancer Based on Gene Expression and Methylation Analysis.Diagnostics (Basel, Switzerland) · 2023Article
- Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding.American journal of human genetics · 2023Article
- Epigenomic charting and functional annotation of risk loci in renal cell carcinoma.Nature communications · 2023Article
- Circadian Rhythm Dysregulation and Leukemia Development: The Role of Clock Genes as Promising Biomarkers.International journal of molecular sciences · 2022Review
- BHLHE41/DEC2 Expression Induces Autophagic Cell Death in Lung Cancer Cells and Is Associated with Favorable Prognosis for Patients with Lung Adenocarcinoma.International journal of molecular sciences · 2021Article
- PRR11 promotes ccRCC tumorigenesis by regulating E2F1 stability.JCI insight · 2021Article
- Altered regulation of DPF3, a member of the SWI/SNF complexes, underlies the 14q24 renal cancer susceptibility locus.American journal of human genetics · 2021Article
- The Choice of Candidates in Survival Markers Based on Coordinated Gene Expression in Renal Cancer.Frontiers in oncology · 2021Article
- BHLHE41 suppresses MCF-7 cell invasion via MAPK/JNK pathway.Journal of cellular and molecular medicine · 2020Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
Genome-wide association studies have identified multiple renal cell carcinoma (RCC) susceptibility loci. Here, we use regional imputation and bioinformatics analysis of the 12p12.1 locus to identify the single-nucleotide polymorphism (SNP) rs7132434 as a potential functional variant. Luciferase assays demonstrate allele-specific regulatory activity and, together with data from electromobility shift assays, suggest allele-specific differences at rs7132434 for AP-1 transcription factor binding. In an analysis of The Cancer Genome Atlas data, SNPs highly correlated with rs7132434 show allele-specific differences in BHLHE41 expression (trend P value=6.3 × 10(-7)). Cells overexpressing BHLHE41 produce larger mouse xenograft tumours, while RNA-seq analysis reveals that constitutively increased BHLHE41 induces expression of IL-11. We conclude that the RCC risk allele at 12p12.1 maps to rs7132434, a functional variant in an enhancer that upregulates BHLHE41 expression which, in turn, induces IL-11, a member of the IL-6 cytokine family.
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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.