Intronic Polymorphisms of the SMAD7 Gene in Association with Colorectal Cancer

Damavand, Behzad; Derakhshani, Shaghayegh; Saeedi, Nastaran; Mohebbi, Seyed Reza; Milanizadeh, Saman; Azimzadeh, Pedram; Aghdaie, Hamid Asadzadeh; Zali, Mohammad Reza

doi:10.7314/apjcp.2015.16.1.41

Cited by 9 publications

(5 citation statements)

References 25 publications

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“…As one of the key effectors of TGF-β signaling, perturbation of SMAD7 expression has been documented to influence CRC progression [7][27]. Though the functional role of the SMAD7 polymorphisms (rs4464148, rs4939827, and rs12953717) has not yet been interpreted, a number of published epidemiological studies have reported that these polymorphisms are correlated with the risk of developing multiple cancers [12, 28, 29]. However, other studies have reported that these polymorphisms are not associated with cancer development [17–20].…”

Section: Discussionmentioning

confidence: 99%

SMAD7 polymorphisms and colorectal cancer risk: a meta-analysis of case-control studies

Huang

Nie

et al. 2016

Oncotarget

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Mothers against decapentaplegic homolog 7 (SMAD7) inhibits the transforming growth factor-β (TGF-β) signaling pathway, which regulates carcinogenesis and cancer progression. A number of studies have reported that SMAD7 polymorphisms (rs4464148, rs4939827, and rs12953717) are associated with colorectal cancer (CRC) risk, but the results from these studies remain conflicting. To determine a more precise estimation of the relationship between SMAD7 and CRC, we undertook a large-scale meta-analysis of 63 studies, which included a total of 187,181 subjects (86,585 cases and 100,596 controls). The results of our meta-analysis revealed that the C allele of rs4464148 [CC vs. TT+TC, odds ratio (OR) =1.23, 95% confidence interval (CI): 1.14–1.33, P < 0.01], the T allele of rs4939827 [TT vs. CC+TC, odds ratio OR=1.15, 95%CI:1.07–1.22, P < 0.01] and the T allele of rs12953717 [TT vs. CC+TC, OR =1.22, 95%CI:1.16–1.29, P < 0.01] were all associated with the increased CRC risk. Subgroup analysis according to ethnicity showed rs4464148 and rs12953717 were associated with the risk of CRC in both Caucasians and Asians, whereas rs4939827 was a risk polymorphism for CRC specifically in Caucasians. In summary, this large-scale meta-analysis indicated that SMAD7 polymorphisms (rs4464148, rs4939827, and rs12953717) correlate with CRC.

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Section: Discussionmentioning

confidence: 99%

SMAD7 polymorphisms and colorectal cancer risk: a meta-analysis of case-control studies

Huang

Nie

et al. 2016

Oncotarget

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“… 19 , 30 Furthermore, there seems to exist strong associations between gene polymorphisms in CASC8 (rs7837328, rs7014346, rs6983267, rs10505477), SMAD7 (rs4939827, rs4464148, rs12953717), and an increased risk of CRC. 8 , 17 , 31 – 37 However, the correlation between these gene polymorphisms and the susceptibility to CRC is still unclear due to various conclusions drawn by individual studies.…”

Section: Discussionmentioning

confidence: 99%

Correlation Between CASC8, SMAD7 Polymorphisms and the Susceptibility to Colorectal Cancer

et al. 2015

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Genome-wide association studies (GWASs) and a number of case–control studies have suggested that several single nucleotide polymorphisms (SNPs), rs7837328, rs7014346, rs6983267, rs10505477 on CASC8 gene and rs4939827, rs4464148, rs12953717 on SMAD7 gene are significantly correlated with the susceptibility to colorectal cancer (CRC). For the sake of clarifying the association, a meta-analysis was conducted and population heterogeneity was considered in the study.A total of 34 articles including 90 studies (168,471 cases and 163,223 controls) that evaluated the relationship between the CASC8, SMAD7 genes and the risk of CRC under the allelic model were reviewed. Also subgroup analysis was performed by ethnicity (Caucasian, Asian, and African) and all of the analyses were implemented in R 3.2.1 software.Pooled data from the meta-analysis revealed that the A allele of rs7837328, the A allele of rs7014346, the G allele of rs6983267, the A allele of rs10505477, the T allele of rs4939827, the T of rs4464148, and the T of rs12953717 were significantly associated with an increased risk of CRC under the allelic model. Additionally, subgroup analyses of 6 SNPs by ethnicity (rs4464148 excepted) witnessed that the A allele of rs7837328, the G allele of rs6983267, and the T of rs12953717 were notably associated with an increased risk of CRC among Caucasian and Asian. Furthermore, the A allele of rs7014346, the A allele of rs10505477, and the T allele of rs4939827 were significantly related with an elevated risk of CRC only among Caucasian.Our study suggested that for CASC8 gene, SNP of rs7837328 and rs6983267 are risk factors for CRC among both Caucasian and Asian whereas rs7014346 and rs10505477 are risky gene polymorphisms only among Caucasian. 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.

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“…After dropping studies that were not eligible for HWE (n = 10), a totally of 62 case-control studies were subsequently incorporated, 37 of which focused specifically on the connection between the rs4939827 and the chance of CRC, [7,8,[14][15][16][17][18][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41] while the number of studies examining the connection between rs4464148 and rs12953717 and CRC risk were 10 and 15, respectively. [7,[23][24][25][26][27]29,30,38,39,[41][42][43][44] The above process can be understood more intuitively from Figure 1.…”

Section: Screening Processmentioning

confidence: 99%

Association of several loci of SMAD7 with colorectal cancer: A meta-analysis based on case–control studies

Xiao

Chen²,

Zhu³

et al. 2023

Medicine

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Background: Sma-and mad-related protein 7 (SMAD7) can affect tumor progression by closing transforming growth factorbeta intracellular signaling channels. Despite the extensive research on the correlation between SMAD7 polymorphisms and colorectal cancer (CRC), the conclusions of studies are still contradictory. We conducted a study focusing on the association of SMAD7 polymorphisms rs4939827, rs4464148, and rs12953717 with CRC.Methods: We searched through 5 databases for articles and used odd ratios (ORs) and 95% confidence intervals (CIs) to discuss the correlation of SMAD7 polymorphisms with CRC risk. The heterogeneity will be appraised by subgroup analysis and meta-regression. Contour-enhanced funnel plot, Begg test and Egger test were utilized to estimate publication bias, and the sensitivity analysis illustrates the reliability of the outcomes. We performed False-positive report probability and trial sequential analysis methods to verify results. We also used public databases for bioinformatics analysis.Results: We conclusively included 34 studies totaling 173251 subjects in this study. The minor allele (C) of rs4939827 is a protective factor of CRC (dominant, OR/[95% CI] = 0.89/[0.

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Intronic Polymorphisms of the SMAD7 Gene in Association with Colorectal Cancer

Cited by 9 publications

References 25 publications

SMAD7 polymorphisms and colorectal cancer risk: a meta-analysis of case-control studies

SMAD7 polymorphisms and colorectal cancer risk: a meta-analysis of case-control studies

Correlation Between CASC8, SMAD7 Polymorphisms and the Susceptibility to Colorectal Cancer

Association of several loci of SMAD7 with colorectal cancer: A meta-analysis based on case–control studies

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