The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4

Lubbe, Steven; Pittman, Alan; Olver, Bianca; Lloyd, Amy; Vijayakrishnan, Jairam; Naranjo, Silvia; Dobbins, Sara E.; Gómez-Skármeta, José Luis; Houlston, Richard S.

doi:10.1038/onc.2011.564

Cited by 40 publications

(33 citation statements)

References 36 publications

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“…In an association study, Yang et al (2014) found that rs4444235, a cis-acting regulator of BMP4, could contribute to CRC risk in Taiwanese patients. The relationship between rs4444235 and CRC was also demonstrated by Lubbe et al (2012). However, the association between BMP4 and CRC metastasis remains unclear and further studies are still needed.…”

Section: Discussionmentioning

confidence: 99%

Identification of critical TF-miRNA-mRNA regulation loops for colorectal cancer metastasis

Wang

Liu

2015

Genet. Mol. Res.

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ABSTRACT. To explore the potential cause of colorectal cancer metastasis, gene expression profiles, GSE21510, and miRNA expression profiles, GSE48074, were downloaded from the Gene Expression Omnibus database. Differentially expressed genes in metastatic colorectal and non metastatic colorectal cancer compared with the normal samples were identified via the limma package in R. The differentially expressed miRNAs in colorectal cancer samples with lymph node metastasis compared with those without lymph node metastasis were screened out by the some method. Differentially expressed genes that were upregulated in colorectal cancer samples with distant metastasis in comparison to that in samples without distant metastasis and normal samples were considered to play important roles in colorectal cancer metastasis. Functional enrichment analysis of these genes was conducted using the Database for Annotation, Visualization, and Integrated Discovery v6.7. Biological processes related to cell differentiation and cell proliferation were significantly enriched. TF (transcription factor)-miRNA-mRNA regulation loops were constructed by using the starBase and ChIPBase databases. Finally, six critical regulation loops were screened out. They were composed of two C. Wang et al. 5486©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 5485-5495 (2015) TFs, two miRNAs, and three mRNAs. Some of these TFs, mRNAs, or miRNAs have previously been identified as critical targets in colorectal cancer metastasis. Additionally, several new targets were identified in our study, which may be helpful to improve metastatic colorectal cancer treatment.

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Section: Discussionmentioning

confidence: 99%

Identification of critical TF-miRNA-mRNA regulation loops for colorectal cancer metastasis

Wang

Liu

2015

Genet. Mol. Res.

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“…Mechanistically, rs6983267 was hypothesized to confer risk for colorectal cancer (Pomerantz et al, 2009) and prostate cancer (Wasserman et al, 2010) by influencing MYC expression; however, negative evidence has also been reported (Prokunina-Olsson and Hall;. The SNP rs4444235 showed cis-acting regulation of bone morphogenetic protein 4 (BMP4) (Lubbe et al, 2012), although the relevant mechanisms remain unknown. For the 2 8q24 SNPs, rs6983267 and rs10505477, which were previously identified in solid tumorassociated polymorphisms, we only observed a significant association with GC risk in females.…”

Section: Discussionmentioning

confidence: 99%

Association analysis of colorectal cancer susceptibility variants with gastric cancer in a Chinese Han population

Zhou¹,

Pan²,

Li³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. Evidence suggests that some genetic variants are risk factors for both colorectal cancer (CRC) and gastric cancer (GC). Thus, we selected 12 reported single nucleotide polymorphisms (SNPs) from genome-wide association studies of CRC and conducted this case-control study to assess the associations between these SNPs and the risk for GC in a southern Chinese population. All SNPs were genotyped in 249 individuals with GC and 292 healthy population-matched subjects using the Sequenom MassArray iPLEX System. Association analyses based on the c 2 test and binary logistic regression were performed to determine the odds ratio (OR) and 95% confidence interval (95%CI) for each SNP. A stratified analysis by gender was also performed. Borderline significant associations were observed for rs4444235 (P = 0.070) and rs10411210 (P = 0.084), both fitting the overdominant model. The rs4444235 CT genotype showed a protective effect (OR = 0.72, 95%CI = 0.50-1.03), while the rs10411210 CT genotype was a risk factor (OR = 1.40, 95%CI = 0.96-2.05) as compared with the CC+TT genotype. In the female subgroup, the rs6983267 GT genotype (compared with TT, OR = 2.31, 95%CI = 1.07-4.99) and the rs10505477 CT genotype (compared with TT, OR = 2.36, 95%CI = 1.09-5.11) significantly increased the risk for GC. No significant association was detected for the other SNPs. These results provide evidence that known genetic variants associated with CRC risk may also confer risk for GC.

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“…Although the CT genotype showed a protective effect against gastric cancer [23] , it was also associated with an increased CRC risk [24] . This SNP has been proposed to act as a cis-regulator of BMP4 and thus confer a risk for CRC [25,26] . Based on the results of the present study, the CT genotype is also associated with an increased risk of esophageal cancer.…”

Section: Discussionmentioning

confidence: 99%

Association of colorectal cancer susceptibility variants with esophageal cancer in a Chinese population

Geng

Xun

et al. 2015

WJG

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AIM:To investigate the association between colorectal cancer (CRC) genetic susceptibility variants and esophageal cancer in a Chinese Han population. METHODS:A case-control study was conducted including 360 esophageal cancer patients and 310 healthy controls. Thirty-one single-nucleotide polymorphisms (SNPs) associated with CRC risk from previous genome-wide association studies were analyzed. SNPs were genotyped using Sequenom Mass-ARRAY technology, and genotypic frequencies in controls were tested for departure from HardyWeinberg equilibrium using a Fisher's exact test. The allelic frequencies were compared between cases and controls using a χ 2 test. Associations between the SNPs and the risk of esophageal cancer were tested using various genetic models (codominant, dominant, recessive, overdominant, and additive). ORs and 95%CIs were calculated by unconditional logistic regression with adjustments for age and sex. RESULTS:The minor alleles of rs1321311 and rs4444235 were associated with a 1.53-fold (95%CI: ORIGINAL ARTICLE Case Control StudyAssociation of colorectal cancer susceptibility variants with esophageal cancer in a Chinese population of esophageal cancer, squamous cell carcinoma is the most common, and prognosis highly correlates with disease stage and advancement.Epidemiologic studies indicate that tobacco smoking, alcohol intake, nutritional deficiencies, and dietary carcinogen exposure contribute to the etiology of esophageal cancer [4,5] . However, only a small proportion of individuals exposed to these factors actually develop esophageal cancer, suggesting that genetic factors also play a vital role in susceptibility. It has been reported that susceptibility to esophageal cancer is not dependent on a single gene and is affected by population differences [6,7] . Colorectal cancer (CRC) is the most common malignant tumor of the digestive tract, and the second most common of all gastrointestinal tumors [8] . Recent studies have identified haplotype-tagging singlenucleotide polymorphisms (SNPs) that are associated with an increased colorectal cancer risk in the general population [9][10][11][12] . Previous genetic polymorphism studies in the Chinese population were focused solely on SNPs associated with esophageal cancer risk in genome-wide association studies (GWAS) [13][14][15] . The purpose of the present study was to identify digestive system tumor common susceptibility loci. To achieve this, 31 high-frequency SNPs associated with CRC risk in the Chinese population were evaluated with respect to esophageal cancer risk. MATERIALS AND METHODS Study participantsAll participants were Chinese Han that were seen between January 2011 and February 2014 at the First Affiliated Hospital of the Medical College of Xi'an Jiaotong University. None of the study participants received neoadjuvant therapy or had previous histories of other cancers, chemotherapy, or radiotherapy. Participants were chosen without restrictions of age, sex, or disease stage. None of the healthy control subjects had a...

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The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4

Cited by 40 publications

References 36 publications

Identification of critical TF-miRNA-mRNA regulation loops for colorectal cancer metastasis

Identification of critical TF-miRNA-mRNA regulation loops for colorectal cancer metastasis

Association analysis of colorectal cancer susceptibility variants with gastric cancer in a Chinese Han population

Association of colorectal cancer susceptibility variants with esophageal cancer in a Chinese population

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