SNP-Target Genes Interaction Perturbing the Cancer Risk in the Post-GWAS

Yang, Wenmin; Zhang, Te; Song, Xinzhang; Dong, Gaochao; Xu, Lin; Jiang, Feng

doi:10.3390/cancers14225636

Cited by 19 publications

(15 citation statements)

References 150 publications

(131 reference statements)

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“…Much evidence suggests that they alter an individual’s genetic susceptibility to cancer by regulating gene expression. [ 46 ] Mutations are irreversible variants in DNA that essentially include spontaneous or non-spontaneous mutations in the human genome. Most mutations are disease-causing in nature.…”

Section: Discussionmentioning

confidence: 99%

“…Since mutations are influenced by both environment and genetics, the distribution of snp and mutations is region-specific and race-specific. [ 46 , 47 ] SMAD7, as an inhibitor of the TGF- β signaling pathway, blocks TGF- β signaling through a negative feedback loop, and due to this inhibitory function, SMAD7 can antagonize a variety of TGF-beta-regulated cellular metabolic processes, for instance, cell proliferation, cell differentiation, apoptosis, adhesion, and migration, then impacting CRC progression. [ 3 , 5 , 48 ] By including the maximum number of case–control studies to date, this analysis also consistently concluded that both the T allele of rs12953717 and the C allele of rs4464148 increased the risk of CRC whereas high expression of the C allele of rs4939827 reduced the risk of CRC.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

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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“…The human genome suffers multiple and varied injuries. Still, the rate of mutations remains relatively low due to the intervention of DNA repair mechanisms that recognize the damage that has occurred in the DNA structure [ 10 ].…”

Section: Single Nucleotide Polymorphism and Thyroid Cancermentioning

confidence: 99%

“…The co-existence of pTERT and the BRAF V600E mutation is associated with an unfavorable prognosis, distant metastases, and increased mortality [ 8 , 9 ]. As opposed to genetic mutation, which is defined as any abnormal change in a DNA sequence, a genetic polymorphism is a DNA sequence variation commonly found in the population [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

The Role of Genetic Polymorphisms in Differentiated Thyroid Cancer: A 2023 Update

Tiucă

Paşcanu

2023

Biomedicines

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Thyroid cancer is the most common endocrine malignancy, with an increasing trend in the past decades. It has a variety of different histological subtypes, the most frequent one being differentiated thyroid cancer, which refers to papillary carcinoma, the most common histological type, followed by follicular carcinoma. Associations between genetic polymorphisms and thyroid cancer have been investigated over the years and are an intriguing topic for the scientific world. To date, the results of associations of single nucleotide polymorphisms, the most common genetic variations in the genome, with thyroid cancer have been inconsistent, but many promising results could potentially influence future research toward developing new targeted therapies and new prognostic biomarkers, thus consolidating a more personalized management for these patients. This review focuses on emphasizing the existing literature data regarding genetic polymorphisms investigated for their potential association with differentiated thyroid cancer and highlights the opportunity of using genetic variations as biomarkers of diagnosis and prognosis for thyroid cancer patients.

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“…SNPs are probably considered prospective diagnostic and therapeutic biomarkers in cancer [ 8 ]. In a gene, SNPs can be located at promoter regions, exons, introns, or even at 5′- and 3′ UTR, so they can alter the gene expression [ 9 , 10 , 11 , 12 , 13 ]. SNPs present in long noncoding RNAs (lncRNAs) are reported to be associated with cancer risk as they may change the structure and expression levels of lncRNA [ 14 ].…”

Section: Introductionmentioning

confidence: 99%

Genetic Variants of HOTAIR Associated with Colorectal Cancer: A Case-Control Study in the Saudi Population

Alzeer

Shaik

Parine

et al. 2023

Genes

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Genetic polymorphism in long noncoding RNA (lncRNA) HOTAIR is linked with the risk and susceptibility of various cancers in humans. The mechanism involved in the development of CRC is not fully understood but single nucleotide polymorphisms (SNPs) can be used to predict its risk and prognosis. In the present case-control study, we investigated the relationship between HOTAIR (rs12826786, rs920778, and rs1899663) polymorphisms and CRC risk in the Saudi population by genotyping using a TaqMan genotyping assay in 144 CRC cases and 144 age- and sex-matched controls. We found a significant (p < 0.05) association between SNP rs920778 G > A and CRC risk, and a protective role of SNPs rs12826786 (C > T) and rs1899663 (C > A) was noticed. The homozygous mutant “AA” genotype at rs920778 (G > A) showed a significant correlation with the female sex and colon tumor site. The homozygous TT in SNP rs12816786 (C > T) showed a significant protective association in the male and homozygous AA of SNP rs1899663 (C > A) with colon tumor site. These results indicate that HOTAIR can be a powerful biomarker for predicting the risk of colorectal cancer in the Saudi population. The association between HOTAIR gene polymorphisms and the risk of CRC in the Saudi population was reported for the first time here.

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SNP-Target Genes Interaction Perturbing the Cancer Risk in the Post-GWAS

Cited by 19 publications

References 150 publications

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

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

The Role of Genetic Polymorphisms in Differentiated Thyroid Cancer: A 2023 Update

Genetic Variants of HOTAIR Associated with Colorectal Cancer: A Case-Control Study in the Saudi Population

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