The Relationship Between Single-Nucleotide Polymorphisms, the Expression of DNA Damage Response Genes, and Hepatocellular Carcinoma in a Polish Population

Krupa, Renata; Czarny, Piotr; Wigner, Paulina; Wożny, Joanna; Jabłkowski, Maciej; Kordek, Radzisław; Szemraj, Janusz; Śliwiński, Tomasz

doi:10.1089/dna.2017.3664

Cited by 20 publications

(25 citation statements)

References 87 publications

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“…The +4150G>A variant was associated with colorectal cancer in East Asians . No significant association between FEN1 −69G>A polymorphism and hepatocellular carcinoma was evident in a Polish population …”

Section: Discussionmentioning

confidence: 87%

Association between the flap endonuclease 1 gene polymorphisms and cancer susceptibility: An updated meta‐analysis

Moazeni‐Roodi

Ghavami

Ansari

et al. 2019

J of Cellular Biochemistry

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Flap endonuclease 1 (FEN1) has emerged as an important enzyme in the maintenance of genomic instability and preventing carcinogenesis. The relationship between FEN1 −69G>A (rs174538)+4150G>T (rs4246215) polymorphisms and cancer susceptibility has been reported; however, results were inconclusive. In the present study, a meta-analysis of data from eligible reports was carried out to summarize the possible relationship between FEN1 polymorphisms and cancer risk. A total of 11 articles, including 20 studies with 7366 cases and 9028 controls and 18 studies with 6649 cases and 8325 controls for FEN1 rs174538 and FEN1 rs4246215 polymorphisms, respectively, were recruited for meta-analysis. Overall, meta-analyses showed that FEN1 rs174538 and rs4246215 polymorphisms are significantly associated with the decreased risk of cancer. The stratified analysis proposed that both variants were associated with protection against gastrointestinal cancer, breast cancer, hepatocellular cancer, esophageal cancer, gastric cancer, colorectal cancer, and lung cancer. In conclusion, this meta-analysis revealed an association between FEN1 polymorphisms and cancer risk. Additional studies in a larger study population that include subjects from a variety of ethnicities are warranted to further verify our findings. K E Y W O R D Scancer, flap endonuclease 1, meta-analysis, polymorphism

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Section: Discussionmentioning

confidence: 87%

Association between the flap endonuclease 1 gene polymorphisms and cancer susceptibility: An updated meta‐analysis

Moazeni‐Roodi

Ghavami

Ansari

et al. 2019

J of Cellular Biochemistry

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“…Previous studies have reported that XRCC1 expression is elevated in colorectal [ 43 ], esophageal [ 44 ], and lung cancer tissues [ 45 ]. Similarly, Krupa et al [ 21 ] showed that the mRNA expression of XRCC1 in HCC tissues was significantly lower than that in adjacent non-lesional tissues. The expression of XRCC1 in cancer tissues is closely related to the intrinsic genetic phenotype.…”

Section: Discussionmentioning

confidence: 96%

Associations between three XRCC1 polymorphisms and hepatocellular carcinoma risk: A meta-analysis of case-control studies

Xiong

Zhang

et al. 2018

PLoS ONE

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Conflicting results have been obtained regarding the association between X-ray repair cross complementation group 1 (XRCC1) and susceptibility to hepatocellular carcinoma (HCC). In this study, associations between HCC and three polymorphisms (Arg194Trp, Arg280His, and Arg399Gln) were evaluated using a meta-analysis approach. PubMed, Web of Science, Cochrane Library, the Chinese National Knowledge Infrastructure, and the Wanfang standard database were systematically searched to identify all relevant case-control studies published through March 2018. A total of 32 case-control studies, including 13 that evaluated Arg194Trp, 14 that evaluated Arg280His, and 26 that evaluated Arg399Gln, were analyzed. In the entire study population, XRCC1 Arg399Gln was significantly associated not only with overall risk of HCC (homozygous model, OR = 1.61, 95% CI: 1.40–1.85, P < 0.05; recessive model, OR = 1.40, 95% CI: 1.23–1.59, P < 0.05) but also with the risk of HCC in Chinese patients (homozygous model, OR = 1.78, 95% CI: 1.53–2.08, P < 0.05; recessive model, OR = 1.47, 95% CI: 1.27–1.70, P < 0.05). Limiting the analysis to studies demonstrating Hardy–Weinberg equilibrium (HWE), the results were consistent and robust. Similarly, a significant association between XRCC1 Arg399Gln and HCC risk was found in healthy controls in the general population but not in hospital controls. Trial sequential analysis (TSA), false-positive report probabilities (FPRP), and combined genotype analysis revealed that XRCC1 Arg399Gln is mainly associated with susceptibility to liver cancer. However, there was no association between Arg194Trp or Arg280His and the risk of HCC. These results, indicating that the Arg399Gln polymorphism of XRCC1 is associated with the risk of HCC in the Chinese population, provide a basis for the development of improved detection and treatment approaches.

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“…11,34 After meticulous literature exploration for the articles that investigated the correlation of the APEX1 with the susceptibility of HCC. 25 However, several studies investigated the contribution of the APEX1 (rs1130409*p.Asp148Glu) variant with the elevated risk of multiple cancerous illnesses including renal cell carcinoma, 33 breast cancer, 14,35 osteosarcoma, 36 gastric cancer, 37 lung cancer, 11,12 prostate cancer, 38 pancreatic cancer, 39 oropharyngeal squamous cell carcinoma, 40 and bladder cancer. 41 Obviously, the APEX protein is thought to play an essential function in the oxidation-reduction activities of various transcription factors as well as the repair of the single-strand breaks that originated within the genome.…”

Section: Discussionmentioning

confidence: 99%

Genetic variants of APEX1 p.Asp148Glu and XRCC1 p.Gln399Arg with the susceptibility of hepatocellular carcinoma

Saad

Abdel-Megied

Elbaz

et al. 2021

Journal of Medical Virology

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The DNA repair genes have a crucial function in the base excision repair (BER) mechanism among different cancerous disorders, particularly hepatocellular carcinoma (HCC). The foremost objective of this study is to explore the association of genetic variants of the APEX1 p.Asp148Glu and the XRCC1 p.Gln399Arg with the susceptibility of HCC and to identify the computational bioinformatics frameworks of these missense variants. A total of 250 participants were enrolled in this study, including 150 HCC patients and 100 cancer-free controls. The genomic DNA was characterized and genotyped by applying the PCR-CTPP method. The frequency of the APEX1 (rs1130409*Glu) allele was statistically significant with increased risk of HCC (OR = 1.66, 95% CI = 1.12-2.45), while the XRCC1 (rs25487*Gln) allele conferred a protection against the progression of HCC (OR = 0.64, 95% CI = 0.42-0.96).Furthermore, HCC patients carrying the APEX1 p.Asp148Glu and the XRCC1 p.Gln399Arg variants indicated no significant difference with the clinical, and laboratory parameters (p > .05). Our findings confirmed that the APEX1 p.Asp148Glu variant was associated with increased risk of HCC, while the XRCC1 p.Gln399Arg variant revealed protection against the development of HCC.

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The Relationship Between Single-Nucleotide Polymorphisms, the Expression of DNA Damage Response Genes, and Hepatocellular Carcinoma in a Polish Population

Cited by 20 publications

References 87 publications

Association between the flap endonuclease 1 gene polymorphisms and cancer susceptibility: An updated meta‐analysis

Association between the flap endonuclease 1 gene polymorphisms and cancer susceptibility: An updated meta‐analysis

Associations between three XRCC1 polymorphisms and hepatocellular carcinoma risk: A meta-analysis of case-control studies

Genetic variants of APEX1 p.Asp148Glu and XRCC1 p.Gln399Arg with the susceptibility of hepatocellular carcinoma

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