SMAD7, SMAD family member 7, 4092

N. diseases: 269; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE Among the European CRC-susceptibility SNPs, rs4939827 in SMAD7 was associated with a significant decreased risk of Korean CRC (age-/gender-adjusted odds ratio [95% confidence interval]: additive model, 0.67 [95% CI, 0.47-0.95]; dominant model, 0.59 [95% CI, 0.39-0.91]). rs4779584 and rs10795668 were associated with CRC risk in females and males, respectively. 23875689 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease BEFREE Our results, combined with previous studies, suggest that IL10, PSCA, IL1B, and SMAD7 are significantly correlated with CRC susceptibility in the Han Chinese population. 24557062 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT Genome-wide association study of colorectal cancer identifies six new susceptibility loci. 26151821 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE For SMAD7 gene, rs4939827 and rs4464148 are risk factors for CRC among Caucasian whereas rs12953717 could elevate the susceptibility to CRC in both Caucasian and Asian. 26579801 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE Intronic polymorphisms of the SMAD7 gene in association with colorectal cancer. 25640388 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASDB Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians. 24448986 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE SNP rs7229639 in the SMAD7 gene was found to be associated with CRC risk with an odds ratio (95% confidence interval) associated with the minor allele (A) of 1.22 (1.15-1.29) in the combined analysis of all 11 studies (p = 2.93 × 10(-11) ). 24448986 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASDB Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 24836286 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 AlteredExpression disease BEFREE Consistently, knockdown of Smad7 associates with inactivation of eIF2α, lower CDC25A expression and diminished fraction of proliferating cells in human CRC explants, and reduces the number of intestinal tumors in Apc(min/+) mice. 24556688 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease BEFREE The low expression of IL17A caused by the Smad7 expression in tumor-infiltrating CD4(+) T cells enabled the TNF-α-mediated killing of cancer cells both in vitro and in vivo, thus indicating that the Smad7-mediated plastic effect on T-cell phenotype induces protection against colorectal cancer. 24480808 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 24836286 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease BEFREE Genome-wide association studies (GWAS) in colorectal cancer (CRC) identified five regions near transforming growth factor β-related genes BMP4, GREM1, CDH1, SMAD7 and RPHN2. 24753543 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE The aim of this study was to investigate the influence of a SMAD7 gene polymorphism (rs2337107) on risk of CRC and clinicopathological features in an Iranian population. 24969865 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians. 24448986 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE Taken together, we propose that the associated CRC risk at 18q21.1 is due to four functional variants that regulate SMAD7 expression and potentially perturb a BMP negative feedback loop in TGFβ/BMP signaling pathways. 25375357 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE A comprehensive search was conducted to identify all eligible studies of SMAD7 rs12953717 polymorphism and CRC risk. 23949881 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE SMAD7 rs11874392 presented consistently significant associations with a risk of CRC at both stages, with odds ratio = 1.41 (95% confidence interval = 1.21-1.63) using additive modes in combined analyses. 23275154 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. 23266556 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease BEFREE SMAD7 SNPs were associated with colorectal cancer risk in the Colon Cancer Family Registry. 23560096 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE These findings suggest that individuals with this SMAD7 variant that develop CRC are more probably to have tumors with greater invasiveness and methylation of RUNX3, which potentially contributes to their poorer observed survival. 23104301 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASDB Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. 23266556 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE SMAD7 variant rs4939827 (18q21.1) was significantly associated with CRC risk in Croatian population. 24066093 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE A variant in SMAD7 could affect progression of CRC. 22580541 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASDB Meta-analysis of new genome-wide association studies of colorectal cancer risk. 21761138 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). 22367214 2012