A Comprehensive Evaluation of the Association between Polymorphisms in XRCC1, ERCC2, and XRCC3 and Prognosis in Hepatocellular Carcinoma: A Meta-Analysis

Zhao, Yan; Zhao, Erjiang; Zhang, Junhui; Chen, Yuanyuan; Ma, Junli; Li, Hailiang

doi:10.1155/2019/2408946

Cited by 12 publications

(12 citation statements)

References 28 publications

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“…Enriched genes such as NUSAP1 [Garrido-Rodríguez et al 2019], ASF1B [Han et al 2018] and PRKAA2 [Zhang et al 2020] were associated with proliferation of various cancer types cells, but these genes may be linked with proliferation of hepatoblastoma cells. SNP in enriched genes such as ERCC2 [Zhao et al 2019] and MSH2 [Zhu et al 2018] were involved in progression of hepatocellular carcinoma, but these polymorphic genes may be linked with development of hepatoblastoma. Enriched genes such as TTK (TTK protein kinase) [Miao et al 2016], MKI67 [Yang et al 2017], TET1 [Lin et al 2015], DLGAP5 [Liao et al 2013] and SMYD2 [Zuo et al 2018] were involved in proliferation of hepatocellular carcinoma cells, but these genes may be responsible for proliferation of hepatoblastoma cells.…”

Section: Discussionmentioning

confidence: 99%

Identification of potential core genes in hepatoblastoma via bioinformatics analysis

Vastrad¹,

Vastrad²,

Kotturshetti³

2020

Preprint

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Hepatoblastoma is the childhood liver cancer. Profound efforts have been made to illuminate the pathology, but the molecular mechanisms of hepatoblastoma are still not well understood. To identify the candidate genes in the carcinogenesis and progression of hepatoblastoma, microarray dataset GSE131329 was downloaded from Gene Expression Omnibus (GEO) database. The differentially expressed genes (DEGs) were identified, and pathway and Gene Ontology (GO) enrichment analysis were performed. The protein-protein interaction network (PPI), module analysis, target gene - miRNA regulatory network and target gene - TF regulatory network were constructed and analyzed. A total of 996 DEGs were identified, consisting of 499 up regulated genes and 497 down regulated genes. The pathway and Gene Ontology (GO) enrichment analysis of the DEGs include proline biosynthesis, superpathway of tryptophan utilization, chromosome organization and organic acid metabolic process. Twenty-four hub genes were identified and biological process analysis revealed that these genes were mainly enriched in cell cycle, chromosome organization, lipid metabolic process and oxidation-reduction process. Validation of hub genes showed that TP53, PLK1, AURKA, CDK1, ANLN, ESR1, FGB, ACAT1, GOT1 and ALAS1 may be involved in the carcinogenesis, invasion or recurrence of hepatoblastoma. In conclusion, DEGs and hub genes identified in the present study help us understand the molecular mechanisms underlying the carcinogenesis and progression of hepatoblastoma, and provide candidate targets for diagnosis and treatment of hepatoblastoma.

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Section: Discussionmentioning

confidence: 99%

Identification of potential core genes in hepatoblastoma via bioinformatics analysis

Vastrad¹,

Vastrad²,

Kotturshetti³

2020

Preprint

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“…23,24 | 6287 served two meta-analysis reports that studied the correlation of the XRCC1 (rs25487*p.Gln399Arg) variant with the susceptibility of HCC but with unconvincing conclusions. 24,46 A recent meta-analysis study done among 24 case-control reports revealed that the XRCC1 (rs25487* 399Gln) allele was significantly increased with the progression of HCC under different genetic models (p < 0.05). 24 Absolutely not, another meta-analysis report indicated no significant association of the XRCC1 (rs25487*p.Gln399Arg) variant with the development of HCC under allelic and dominant models.…”

Section: Discussionmentioning

confidence: 99%

“…24 Absolutely not, another meta-analysis report indicated no significant association of the XRCC1 (rs25487*p.Gln399Arg) variant with the development of HCC under allelic and dominant models. 46 Besides that, our team recognized two reports that examined the correlation of the XRCC1 (rs25487*p.Gln399Arg) variant with the increased risk of HCC among Egyptian subjects but in the provinces rather than the delta region of Egypt. 13,47 In a study performed among 50 HCC patients from the South Valley of Egypt, the authors revealed that the XRCC1 (rs25487*399Gln) allele was significantly increased with the progression of HCC (p = 0.007).…”

Section: Discussionmentioning

confidence: 99%

“…Surprisingly, this study indicated that the XRCC1 (rs25487*p.Gln399Arg) variant conferred protection against the development of HCC under homozygote and recessive models ( p < 0.05). Nevertheless, our team observed two meta‐analysis reports that studied the correlation of the XRCC1 (rs25487*p.Gln399Arg) variant with the susceptibility of HCC but with unconvincing conclusions 24,46 . A recent meta‐analysis study done among 24 case‐control reports revealed that the XRCC1 (rs25487* 399Gln) allele was significantly increased with the progression of HCC under different genetic models ( p < 0.05) 24 .…”

Section: Discussionmentioning

confidence: 99%

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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 DNA helicase encoded by the excision repair cross-complementing group 2 gene (ERCC2), also called xeroderma pigmentosum group D (XPD), is involved in basal cellular transcription and NER of DNA lesions [51]. To date, a number of studies have implicated the role of genetic polymorphism within ERCC2 gene in various cancers, such as gastric, pancreatic, glioma, bladder, and hepatocellular carcinoma [52][53][54][55][56][57]. The most studied polymorphisms rs13181 (Lys751Gln) and rs238406 (Arg156Arg) were demonstrated to alter the function of encoded protein, and, in consequence, influence on DNA repair capacity [58,59].…”

Section: Discussionmentioning

confidence: 99%

Liver Cirrhosis in Chronic Hepatitis B Patients Is Associated with Genetic Variations in DNA Repair Pathway Genes

Rybicka

Woziwodzka

Sznarkowska

et al. 2020

Cancers

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Liver cirrhosis (LC), contributing to more than 1 million of deaths annually, is a major healthcare concern worldwide. Hepatitis B virus (HBV) is a major LC etiological factor, and 15% of patients with chronic HBV infection (CHB) develop LC within 5 years. Recently, novel host genetic determinants were shown to influence HBV lifecycle and CHB course. DNA repair enzymes can affect dynamics of liver damage and are involved in HBV covalently closed circular DNA (cccDNA) formation, an essential step for viral replication. This study aimed to evaluate the possible role of genes representing key DNA-repair pathways in HBV-induced liver damage. MALDI-TOF MS genotyping platform was applied to evaluate variations within XRCC1, XRCC4, ERCC2, ERCC5, RAD52, Mre11, and NBN genes. Apart from older age (p < 0.001), female sex (p = 0.021), portal hypertension (p < 0.001), thrombocytopenia (p < 0.001), high HBV DNA (p = 0.001), and high aspartate aminotransferase (AST) (p < 0.001), we found that G allele at rs238406 (ERCC2, p = 0.025), T allele at rs25487 (XRCC1, p = 0.012), rs13181 GG genotype (ERCC2, p = 0.034), and C allele at rs2735383 (NBN, p = 0.042) were also LC risk factors. The multivariate logistic regression model showed that rs25487 CC (p = 0.005) and rs238406 TT (p = 0.027) were independently associated with lower risk of LC. This study provides evidence for the impact of functional and potentially functional variations in key DNA-repair genes XRCC1 and ERCC2 in HBV-induced liver damage in a Caucasian population.

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A Comprehensive Evaluation of the Association between Polymorphisms in XRCC1, ERCC2, and XRCC3 and Prognosis in Hepatocellular Carcinoma: A Meta-Analysis

Cited by 12 publications

References 28 publications

Identification of potential core genes in hepatoblastoma via bioinformatics analysis

Identification of potential core genes in hepatoblastoma via bioinformatics analysis

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

Liver Cirrhosis in Chronic Hepatitis B Patients Is Associated with Genetic Variations in DNA Repair Pathway Genes

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