ArticlePloS one2012
cis-Expression QTL analysis of established colorectal cancer risk variants in colon tumors and adjacent normal tissue.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 4 of them syntheses that pooled it.
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Who cites it
40 citing papers in PubMed, 4 syntheses or guidelines pooled it, 57 citations in OpenAlex.
- Network-based gene deletion analysis identifies candidate genes and molecular mechanism involved in clear cell renal cell carcinoma.Journal of genetics · 2021Pooled it
- A comprehensive meta-analysis of genetic associations between five key SNPs and colorectal cancer risk.Oncotarget · 2016Pooled it
- Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A.Nature communications · 2014Pooled it
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- A genome-wide survey of CD4(+) lymphocyte regulatory genetic variants identifies novel asthma genes.The Journal of allergy and clinical immunology · 2014Trial
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- The genes significantly associated with an improved prognosis and long-term survival of glioblastoma.PloS one · 2023Article
- Human Mitoribosome Biogenesis and Its Emerging Links to Disease.International journal of molecular sciences · 2021Review
- PRMT5 promotes colorectal cancer growth by interaction with MCM7.Journal of cellular and molecular medicine · 2021Article
- Mitoribosome Defect in Hepatocellular Carcinoma Promotes an Aggressive Phenotype with Suppressed Immune Reaction.iScience · 2020Article
- Identification of key genes involved in the development and progression of early-onset colorectal cancer by co-expression network analysis.Oncology letters · 2020Article
- Mapping Tumor-Specific Expression QTLs in Impure Tumor Samples.Journal of the American Statistical Association · 2020Article
- PMEPA1 induces EMT via a non-canonical TGF-β signalling in colorectal cancer.Journal of cellular and molecular medicine · 2019Article
- Identification of prognostic biomarkers in colorectal cancer using a long non-coding RNA-mediated competitive endogenous RNA network.Oncology letters · 2019Article
- Genetic susceptibility in the development of colorectal adenomas according to family history of colorectal cancer.International journal of cancer · 2019Article
- NQO1 is Required for β-Lapachone-Mediated Downregulation of Breast-Cancer Stem-Cell Activity.International journal of molecular sciences · 2018Article
- Colon-specific eQTL analysis to inform on functional SNPs.British journal of cancer · 2018Article
- Functional Genomics of Host-Microbiome Interactions in Humans.Trends in genetics : TIG · 2018Review
- Single nucleotide polymorphisms and sporadic colorectal cancer susceptibility: a field synopsis and meta-analysis.Cancer cell international · 2018Article
- Identification of Key Genes in Colorectal Cancer Regulated by miR-34a.Medical science monitor : international medical journal of experimental and clinical research · 2017Article
Corrections and comments
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Authors and funding
15 authors at 10 institutions in 2 countries.
Funding
Abstract
Genome-wide association studies (GWAS) have identified 19 risk variants associated with colorectal cancer. As most of these risk variants reside outside the coding regions of genes, we conducted cis-expression quantitative trait loci (cis-eQTL) analyses to investigate possible regulatory functions on the expression of neighboring genes. Forty microsatellite stable and CpG island methylator phenotype-negative colorectal tumors and paired adjacent normal colon tissues were used for genome-wide SNP and gene expression profiling. We found that three risk variants (rs10795668, rs4444235 and rs9929218, using near perfect proxies rs706771, rs11623717 and rs2059252, respectively) were significantly associated (FDR q-value ≤0.05) with expression levels of nearby genes (<2 Mb up- or down-stream). We observed an association between the low colorectal cancer risk allele (A) for rs10795668 at 10p14 and increased expression of ATP5C1 (q = 0.024) and between the colorectal cancer high risk allele (C) for rs4444235 at 14q22.2 and increased expression of DLGAP5 (q = 0.041), both in tumor samples. The colorectal cancer low risk allele (A) for rs9929218 at 16q22.1 was associated with a significant decrease in expression of both NOL3 (q = 0.017) and DDX28 (q = 0.046) in the adjacent normal colon tissue samples. Of the four genes, DLGAP5 and NOL3 have been previously reported to play a role in colon carcinogenesis and ATP5C1 and DDX28 are mitochondrial proteins involved in cellular metabolism and division, respectively. The combination of GWAS findings, prior functional studies, and the cis-eQTL analyses described here suggest putative functional activities for three of the colorectal cancer GWAS identified risk loci as regulating the expression of neighboring genes.
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