ArticleGenome research2009
The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression.
Article in Genome research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 3 of them syntheses that pooled it.
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Who cites it
52 citing papers in PubMed, 3 syntheses or guidelines pooled it, 91 citations in OpenAlex.
- SMAD7 polymorphisms and colorectal cancer risk: a meta-analysis of case-control studies.Oncotarget · 2016Pooled it
- Pooled it
- A common SMAD7 variant is associated with risk of colorectal cancer: evidence from a case-control study and a meta-analysis.PloS one · 2012Pooled it
- OCC-1D regulates Wnt signaling pathway: potential role of long noncoding RNA in colorectal cancer.Molecular biology reports · 2022Article
- Identification of potential functional variants and genes at 18q21.1 associated with the carcinogenesis of colorectal cancer.PLoS genetics · 2022Article
- Identification of a TGF-β/SMAD/lnc-UTGF positive feedback loop and its role in hepatoma metastasis.Signal transduction and targeted therapy · 2021Article
- Association of Body Mass Index With Colorectal Cancer Risk by Genome-Wide Variants.Journal of the National Cancer Institute · 2021Article
- The association between SMAD7 polymorphisms and colorectal cancer susceptibility as well as clinicopathological features in the Iranian population.Gastroenterology and hepatology from bed to bench · 2020Article
- Article
- The role of histone modification and a regulatory single-nucleotide polymorphism (rs2071166) in the Cx43 promoter in patients with TOF.Scientific reports · 2017Article
- Regulation of TGF-β Family Signaling by Inhibitory Smads.Cold Spring Harbor perspectives in biology · 2017Review
- Integrative Functional Genomics Implicates EPB41 Dysregulation in Hepatocellular Carcinoma Risk.American journal of human genetics · 2016Article
- Colorectal cancer carcinogenesis: a review of mechanisms.Cancer biology & medicine · 2016Article
- Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk.European journal of human genetics : EJHG · 2016Article
- Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants.PloS one · 2016Article
- Review
- Shared and independent colorectal cancer risk alleles in TGFβ-related genes in African and European Americans.Carcinogenesis · 2014Article
- Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians.International journal of cancer · 2014Article
- Dissecting the causal genetic mechanisms of coronary heart disease.Current atherosclerosis reports · 2014Review
- Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 3 countries.
Funding
Abstract
Recent genome-wide scans for colorectal cancer (CRC) have revealed the SMAD7 (mothers against decapentaplegic homolog 7) gene as a locus associated with a modest, but highly significant increase in CRC risk. To identify the causal basis of the association between 18q21 variation and CRC, we resequenced the 17-kb region of linkage disequilibrium and evaluated all variants in 2532 CRC cases and 2607 controls. A novel C to G single nucleotide polymorphism (SNP) at 44,703,563 bp was maximally associated with CRC risk (P = 5.98 x 10(-7); > or =1.5-fold more likely to be causal than other variants). Using transgenic assays in Xenopus laevis as a functional model, we demonstrate that the G risk allele leads to reduced reporter gene expression in the colorectum (P = 5.4 x 10(-3)). Electrophoretic mobility shift assays provided evidence for the role of Novel 1 in transcription factor binding. We propose that the novel SNP we have identified is the functional change leading to CRC predisposition through differential SMAD7 expression and, hence, aberrant TGF-beta signaling.
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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.