A comprehensive meta-analysis of non-coding polymorphisms associated with precancerous lesions and cervical cancer

Das, Agneesh Pratim; Saini, Sandeep; Agarwal, Subhash Mohan

doi:10.1016/j.ygeno.2022.110323

Cited by 8 publications

(3 citation statements)

References 35 publications

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“…Dai et al. found the CTLA-4 rs3087243 polymorphism may reduce breast cancer risk, however, rs4553808 may increase breast cancer risk in different ethnicity or genetic models ( 108 , 109 ). Another polymorphism rs231775 is the most common SNP that has been reported in many tumors, however, a clear conclusion has not been gained yet despite few meta-analyses ( 110 , 111 ).…”

Section: Discussionmentioning

confidence: 99%

Comprehensive Analysis of 29,464 Cancer Cases and 35,858 Controls to Investigate the Effect of the Cytotoxic T-Lymphocyte Antigen 4 Gene rs231775 A/G Polymorphism on Cancer Risk

et al. 2022

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In our previous studies, we found that the rs231775 polymorphism of cytotoxic T-lymphocyte antigen 4 (CTLA-4) is associated with risks of different cancer types; however, the association remains controversial and ambiguous, so we conducted an in-depth meta-analysis to verify the association. A complete search of the PubMed, Google Scholar, Embase, Chinese databases, and Web of Science was conducted without regard to language limitations, covering all publications since November 20, 2021. The search criteria for cancer susceptibility associated with the polymorphism in the CTLA-4 gene rs231775 resulted in 87 case-control studies with 29,464 cases and 35,858 controls. The association strength was analyzed using odds ratios and 95% confidence intervals. Overall, we found that the CTLA-4 rs231775 polymorphism may reduce cancer risk. A stratified cancer type analysis showed that CTLA-4 rs231775 polymorphism was a risk factor for colorectal cancer and thyroid cancer; on the other hand, it was a protective factor for breast cancer, liver cancer, cervical cancer, bone cancer, head and neck, and pancreatic cancer. We also classified cancer into five systems and observed an increased association with digestive tract cancer, decreased associations with orthopedic tumors, tumors of the urinary system, and gynecological tumors. In the subgroup based on race, decreased relationships were observed in both Asians and Caucasians. The same decreased association was also shown in the analysis of the source of control analysis. Our present study indicates that the CTLA-4 rs231775 polymorphism contributes to cancer development and aggression.

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Section: Discussionmentioning

confidence: 99%

Comprehensive Analysis of 29,464 Cancer Cases and 35,858 Controls to Investigate the Effect of the Cytotoxic T-Lymphocyte Antigen 4 Gene rs231775 A/G Polymorphism on Cancer Risk

et al. 2022

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“…But the effects of this polymorphisms residing in the noncoding regions (i.e., introns, promoters, 3′ and 5′ termini, etc.) have been investigated to a lesser extent as their exact mechanism of action is unknown and therefore, demands additional attention [29].…”

Section: Discussionmentioning

confidence: 99%

Cytokine gene polymorphisms of TNF, IFN-γ, and IL-12 as potential predictors in the onset of cervical disease in HR HPV-positive women with behavioral risk cofactors

Tasic-Tomic¹,

Pravica

Tasić

et al. 2022

Srp Arh Celok Lek

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Introduction/Objective. The aim of this study was to investigate the distribution of genotypes and alleles of proinflammatory cytokines TNF, IFN-?, and IL-12 and their effect on the development of a cervical illness and also to determine their associated influence with cofactors in HR HPV positive women in Serbia. Methods. We have investigated 24 women and based on the cytological findings they were classified into four groups: PAP II, ASCUS, LSIL and HSIL. Analysis of TNF, IL-12 and IFN-? polymorphisms was performed using Real-time PCR TaqMan method. Statistical analysis was performed using parametric and non-parametric tests and correlation and multiple regression analysis. Results. Significantly higher frequency of high production related TNF AA genotype was observed in severe dysplasia. The correlation between TNF gene polymorphism and cervical findings were highly significant. There was a moderate, significant correlation between low production IFN-g AA genotype and earlier cervical infections. There was a significant correlation between the IL-12 polymorphism of the low production IL-12 AA genotype and cervical lesions. Conclusion Results of this study show that HSIL is associated with significantly higher frequency of high production TNF AA genotype. It is known that polymorphisms of certain cytokine genes encoding proteins involved in Th1 and Th2 cellular responses may be associated with better or worse prognosis of cervical disease in women with persistent HR HPV infection. Therefore, they may be considered as biomarkers that may have a predictive role in the development of cervical cancer.

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“…Population-based case-control studies of candidate genes are routinely used for analyzing the genotypic distribution of SNPs in cancer patients and normal populations, which help in drawing conclusions about their role in cancer susceptibility. Moreover, since the outcomes of individual candidate gene-based population studies are often dissimilar in different populations, a meta-analysis allows us to pool the data from all such investigations and re-evaluate the hypothesis based on the previously known studies [ 5 , 6 ]. Although numerous studies exist that analyze the effect of individual polymorphisms on EC incidence, a comprehensive meta-analysis of a number of SNPs has not been reported yet.…”

Section: Introductionmentioning

confidence: 99%

Meta-Analysis of 49 SNPs Covering 25,446 Cases and 41,106 Controls Identifies Polymorphisms in Hormone Regulation and DNA Repair Genes Associated with Increased Endometrial Cancer Risk

Das

Chaudhary

Tyagi

et al. 2023

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Endometrial cancer (EC) is among the most common gynecological disorders globally. As single nucleotide polymorphisms (SNPs) play an important role in the causation of EC, therefore, a comprehensive meta-analysis of 49 SNPs covering 25,446 cases and 41,106 controls was performed to identify SNPs significantly associated with increased EC risk. PubMed was searched to identify case control studies and meta-analysis was performed to compute the pooled odds ratio (OR) at 95% confidence interval (CI). Cochran’s Q-test and I2 were used to study heterogeneity, based on which either a random or a fixed effect model was implemented. The meta-analysis identified 11 SNPs (from 10 genes) to be significantly associated with increased EC risk. Among these, seven SNPs were significant in at least three of the five genetic models, as well as three of the polymorphisms (rs1801320, rs11224561, and rs2279744) corresponding to RAD51, PGR, and MDM2 genes, which contained more than 1000 EC cases each and exhibited increased risk. The current meta-analysis indicates that polymorphisms associated with various hormone related genes—SULT1A1 (rs1042028), PGR (rs11224561), and CYP19A1 (rs10046 and rs4775936); DNA repair genes—ERCC2 (rs1799793), OGG1 (rs1052133), MLH1 (rs1800734), and RAD51 (rs1801320) as well as genes like MDM2 (rs2279744), CCND1 (rs9344), and SERPINE1 (rs1799889), are significantly associated with increased EC risk.

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A comprehensive meta-analysis of non-coding polymorphisms associated with precancerous lesions and cervical cancer

Cited by 8 publications

References 35 publications

Comprehensive Analysis of 29,464 Cancer Cases and 35,858 Controls to Investigate the Effect of the Cytotoxic T-Lymphocyte Antigen 4 Gene rs231775 A/G Polymorphism on Cancer Risk

Comprehensive Analysis of 29,464 Cancer Cases and 35,858 Controls to Investigate the Effect of the Cytotoxic T-Lymphocyte Antigen 4 Gene rs231775 A/G Polymorphism on Cancer Risk

Cytokine gene polymorphisms of TNF, IFN-γ, and IL-12 as potential predictors in the onset of cervical disease in HR HPV-positive women with behavioral risk cofactors

Meta-Analysis of 49 SNPs Covering 25,446 Cases and 41,106 Controls Identifies Polymorphisms in Hormone Regulation and DNA Repair Genes Associated with Increased Endometrial Cancer Risk

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