ArticleOncogene2012
The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4.
Article in Oncogene, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
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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
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 44 citations in OpenAlex.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- Pooled it
- Gene regulatory network transitions reveal the central transcription factors in lung adenocarcinoma progression.NPJ systems biology and applications · 2026Article
- OCC-1D regulates Wnt signaling pathway: potential role of long noncoding RNA in colorectal cancer.Molecular biology reports · 2022Article
- Promoter/enhancer-based controllability of regulatory networks.Scientific reports · 2022Article
- Identification of potential diagnostic and prognostic biomarkers for LUAD based on TCGA and GEO databases.Bioscience reports · 2021Article
- A transcription-centric model of SNP-age interaction.PLoS genetics · 2021Article
- Evaluation of gene-environment interactions for colorectal cancer susceptibility loci using case-only and case-control designs.BMC cancer · 2019Article
- Inhibition of bone morphogenetic protein signaling reduces viability, growth and migratory potential of non-small cell lung carcinoma cells.Journal of cancer research and clinical oncology · 2019Article
- DeFine: deep convolutional neural networks accurately quantify intensities of transcription factor-DNA binding and facilitate evaluation of functional non-coding variants.Nucleic acids research · 2018Article
- Single Nucleotide Polymorphism in SMAD7 and CHI3L1 and Colorectal Cancer Risk.Mediators of inflammation · 2018Review
- The non-coding variant rs1800734 enhances DCLK3 expression through long-range interaction and promotes colorectal cancer progression.Nature communications · 2017Article
- A subset of genetic susceptibility variants for colorectal cancer also has prognostic value.The pharmacogenomics journal · 2016Article
- The search for cis-regulatory driver mutations in cancer genomes.Oncotarget · 2015Review
- Review
- Association of colorectal cancer susceptibility variants with esophageal cancer in a Chinese population.World journal of gastroenterology · 2015Article
- A 190 base pair, TGF-β responsive tooth and fin enhancer is required for stickleback Bmp6 expression.Developmental biology · 2015Article
- Observational
- Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.Human genetics · 2014Review
- Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
Common genetic variation at human 14q22.2 tagged by rs4444235 is significantly associated with colorectal cancer (CRC) risk. Re-sequencing was used to comprehensively annotate the 17kb region of strong linkage disequilibrium encompassing rs4444235. Through bioinformatic analyses using H3K4Me1, H3K4Me3, and DNase-I hypersensitivity chromatin signatures and evolutionary conservation we identified seven candidate disease-causing single-nucleotide polymorphisms mapping to six regions within the 17-kb region predicted to have regulatory potential. Reporter gene studies of these regions demonstrated that the element to which rs4444235 maps acts as an allele-specific transcriptional enhancer. Allele-specific expression studies in CRC cell lines heterozygous for rs4444235 showed significantly increased expression of bone morphogenetic protein-4 (BMP4) associated with the risk allele (P<0.001). These data provide evidence for a functional basis for the non-coding risk variant rs4444235 at 14q22.2 and emphasizes the importance of genetic variation in the BMP pathway genes as determinants of CRC risk.
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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.