Polymorphisms in nucleotide excision repair genes and basal cell carcinoma of the skin

Pesz, Karolina; Bieniek, Andrzej; Gil, Justyna; Łaczmańska, Izabela; Karpiński, Paweł; Makowska, Izabela; Trusewicz, Alicja; Sasiadek, Maria M.

doi:10.1111/ijd.12156

Cited by 2 publications

(1 citation statement)

References 18 publications

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“…Several studies have been developed with the aim of identifying sets of SNPs that serve as markers for predisposition to multifactorial diseases or for mapping of linkage disequilibrium in all genomes (Takahashi et al, 2008). Pesz et al, (2014) reports that several case studies have investigated the influence of various SNPs on the development of BCC.…”

Section: Introductionmentioning

confidence: 99%

Association between SNPs and Loss of Methylation Site on the CpG island of the Promoter Region of the Smoothened Gene, Potential Molecular Markers for Susceptibility to the Development of Basal Cell Carcinoma in the Brazilian Population

Souza

Lopes

Liberato

et al. 2020

Asian Pac J Cancer Prev

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Objective: Perform genotyping of SNPs in the promoter region of the SMO gene in BCC samples from patients from northeastern Brazil, and to determine if there is an association of these SNPs of the gene in question with the susceptibility to the development of the BCC. Methods: 100 samples of paraffined tissue from patients with histopathological diagnosis of BCC and 100 control samples were analyzed for each polymorphism by a newly developed genotyping method, the Dideoxy Single Allele Specific -PCR. The software Bioestat -version 5.3 and Haploview 4.2 were used for the statistical analysis. For all tests a P-value <0.05 was considered significant. Results: The SNP rs538312246 is the Hardy-Weinberg equilibrium, therefore, it did not present significant association with the BCC (X² =2.343 and P<0.158). However, the CpG-SNPs rs375350898 and rs75827493 were significantly associated to the BCC in the analyzed samples (X 2 = 27,740/21,500 and P <0001), the SNP rs75827493 showed a significant association with the BCC of the nodular subtype (P <0.0069). Therefore, our results suggest that SNPs rs375350898 and rs75827493 are potential molecular markers for susceptibility to BCC. Conclusion: The ability to detect SNP in a population, especially in promoter regions, has profoundly changed human genetic studies. This study allowed the understanding of the relationship between the presence of SNPs in CpG islands of the promoter region of the SMO gene can modify the methylation pattern and provide susceptibility to BCC in the population.

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Section: Introductionmentioning

confidence: 99%

Association between SNPs and Loss of Methylation Site on the CpG island of the Promoter Region of the Smoothened Gene, Potential Molecular Markers for Susceptibility to the Development of Basal Cell Carcinoma in the Brazilian Population

Souza

Lopes

Liberato

et al. 2020

Asian Pac J Cancer Prev

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Association of human XPA rs1800975 polymorphism and cancer susceptibility: an integrative analysis of 71 case–control studies

Yuan

2020

Cancer Cell Int

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Background: The objective of the present study is to comprehensively evaluate the impact of the rs1800975 A/G polymorphism within the human xeroderma pigmentosum group A (XPA) gene on susceptibility to overall cancer by performing an integrative analysis of the current evidence. Methods: We retrieved possible relevant publications from a total of six electronic databases (updated to April 2020) and selected eligible case-control studies for pooled assessment. P-values of association and odds ratio (OR) were calculated for the assessment of association effect. We also performed Begg's test and Egger's test, sensitivity analysis, false-positive report probability (FPRP) analysis, trial sequential analysis (TSA), and expression/splicing quantitative trait loci (eQTL/sQTL) analyses. Results: In total, 71 case-control studies with 19,257 cases and 30,208 controls from 52 publications were included for pooling analysis. We observed an enhanced overall cancer susceptibility in cancer cases compared with negative controls in the Caucasian subgroup analysis for the genetic models of allelic G vs. A, carrier G vs. A, homozygotic GG vs AA, heterozygotic AG vs. AA, dominant AG + GG vs. AA and recessive GG vs. AA + AG (P < 0.05, OR > 1). A similar positive conclusion was also detected in the "skin cancer" or "skin basal cell carcinoma (BCC)" subgroup analysis of the Caucasian population. Our FPRP analysis and TSA results further confirmed the robustness of the conclusion. However, our eQTL/sQTL data did not support the strong links of rs1800975 with the gene expression or splicing changes of XPA in the skin tissue. In addition, even though we observed a decreased risk of lung cancer under the homozygotic, heterozygotic and dominant models (P < 0.05, OR < 1) and an enhanced risk of colorectal cancer under the allelic, homozygotic, heterozygotic, dominant (P < 0.05, OR > 1), our data from FPRP analysis and another pooling analysis with only the population-based controls in the Caucasian population did not support the strong links between the XPA rs1800975 A/G polymorphism and the risk of lung or colorectal cancer. Conclusions: Our findings provide evidence of the close relationship between the XPA rs1800975 A/G polymorphism and susceptibility to skin cancer in the Caucasian population. The potential effect of XPA rs1800975 on the risk of developing lung or colorectal cancer still merits the enrollment of larger well-scaled studies.

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Polymorphisms in nucleotide excision repair genes and basal cell carcinoma of the skin

Abstract: There is no consistency in association studies between SNPs and BCC susceptibility. SNPs in NER genes seem to have an insignificant influence on the risk of developing BCC of the skin.

Cited by 2 publications

References 18 publications

Association between SNPs and Loss of Methylation Site on the CpG island of the Promoter Region of the Smoothened Gene, Potential Molecular Markers for Susceptibility to the Development of Basal Cell Carcinoma in the Brazilian Population

Association between SNPs and Loss of Methylation Site on the CpG island of the Promoter Region of the Smoothened Gene, Potential Molecular Markers for Susceptibility to the Development of Basal Cell Carcinoma in the Brazilian Population

Association of human XPA rs1800975 polymorphism and cancer susceptibility: an integrative analysis of 71 case–control studies

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