Implication of polymorphisms in DNA repair genes with an increased risk of hepatocellular carcinoma

Wu, Jian; Chen, Y.P.; Wang, L.C.; Yang, Yi-Ju; Deng, Chengwei; Hou, Benxin; He, Ziqi; Chen, J.X.

doi:10.4238/2014.may.16.5

Cited by 12 publications

(11 citation statements)

References 17 publications

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“…Using the predefined key words, we have identified a total of 78 potential relevant articles from PubMed and Embase databases. Through a rigorous process of selection, 20 English articles involving 20 independent studies (6449 hepatocellular carcinoma patients and 8263 controls) were qualified for the final analysis [8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27], and the selection process is presented in Fig. S1.…”

Section: Resultsmentioning

confidence: 99%

The association of six non‐synonymous variants in three DNA repair genes with hepatocellular carcinoma risk: a meta‐analysis

Shi

Wang

et al. 2016

J Cellular Molecular Medi

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Hepatocellular carcinoma is a complex polygenic disease. Despite the huge advances in genetic epidemiology, it still remains a challenge to unveil the genetic architecture of hepatocellular carcinoma. We, therefore, decided to meta‐analytically assess the association of six non‐synonymous coding variants from XRCC1,XRCC3 and XPD genes with hepatocellular carcinoma risk by pooling the results of 20 English articles. This meta‐analysis was conducted according to the PRISMA statement, and data collection was independently completed in duplicate. In overall analyses, the minor alleles of four variants, Arg280His (odds ratio, 95% confidence interval, P: 1.37, 1.13–1.66, 0.001), Thr241Met (1.93, 1.17–3.20, 0.011), Asp312Asn (1.22, 1.08–1.38, 0.001) and Lys751Gln (1.42, 1.02–1.97, 0.038), were associated with the significant risk for hepatocellular carcinoma. There were low probabilities of publication bias for all variants. Subgroup analyses revealed significant association of XRCC1 gene Arg399Gln with hepatocellular carcinoma in Chinese especially from south China (odds ratio, 95% confidence interval, P: 1.57, 1.16–2.14, 0.004), in larger studies (1.48, 1.11–1.98, 0.007) and in studies with population‐based controls (1.33, 1.06–1.68, 0.016). Taken together, our findings demonstrated that XPD gene Asp312Asn and XRCC1 gene Arg399Gln might be candidate susceptibility loci for hepatocellular carcinoma. Considering the ubiquity of genetic heterogeneity, further validation in a broad range of ethnic populations is warranted.

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Section: Resultsmentioning

confidence: 99%

The association of six non‐synonymous variants in three DNA repair genes with hepatocellular carcinoma risk: a meta‐analysis

Shi

Wang

et al. 2016

J Cellular Molecular Medi

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“…A total of 449 articles were reviewed, and eventually 86 articles with 38,848 cases and 48,928 controls met the inclusion criteria. Among these publications, there was 1 osteosarcoma [ 23 ], 1 hepatocellular cancer (HCC) [ 24 ], 3 oral cancer [ 25 – 27 ], 5 skin cancer [ 28 – 32 ], 5 colorectal cancer [ 23 , 33 – 36 ], 6 head and neck cancer [ 37 – 42 ], 6 esophageal cancer [ 43 – 48 ], 6 non-Hodgkin lymphoma [ 49 – 54 ], 6 prostate cancer [ 55 – 60 ], 8 gastric cancer [ 61 – 67 ], 12 bladder cancer [ 68 – 79 ], 14 lung cancer [ 70 , 80 – 92 ], and 15 breast cancer [ 23 , 32 , 93 – 105 ]. The detailed study selection process is shown in Figure 1 .…”

Section: Resultsmentioning

confidence: 99%

“…Notably, HCC, osteosarcoma, oral cancer, and colorectal cancer were not included for further analysis as there were fewer than 6 studies available for analysis for such cancers. Wu et al indicated that the ERCC2 Asp312Asn polymorphism was not associated with the development of HCC [ 24 ]. Gomez-Diaz et al demonstrated no relationship between ERCC2 Asp312Asn polymorphism and osteosarcoma [ 23 ].…”

Section: Discussionmentioning

confidence: 99%

Association between the ERCC2 Asp312Asn polymorphism and risk of cancer

Xiao

Wen

et al. 2017

Oncotarget

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Cancer is the leading cause of death in economically developed countries and the second leading cause of death in developing countries. The relationship between genetic polymorphisms and the risk of cancers has been widely researched. Excision repair cross-complementing group 2 (ERCC2) gene plays important roles in the nucleotide excision repair pathway. There is contrasting evidence on the association between the ERCC2 Asp312Asn polymorphism and the risk of cancer. We conducted a comprehensive meta-analysis in order to assess the correlation between these factors. We searched the PubMed, EMBASE, Science Direct, Web of Science, and CNKI databases for studies published from January 1, 2005 to January 1, 2016. Finally, 86 articles with 38,848 cases and 48,928 controls were included in the analysis. The overall analysis suggested a significant association between the ERCC2 Asp312Asn polymorphism and cancer risk. Furthermore, control source, ethnicity, genotyping method, and cancer type were used for subgroup analysis. The result of a trial sequential analysis indicated that the cumulative evidence is adequate; hence, further trials were unnecessary in the overall analysis for homozygote comparison. In summary, our results suggested that ERCC2 Asp312Asn polymorphism is associated with increased cancer risk. A significantly increased cancer risk was observed in Asian populations, but not in Caucasian populations. Furthermore, the ERCC2 Asp312Asn polymorphism is associated with bladder, esophageal, and gastric cancers, but not with breast, head and neck, lung, prostate, and skin cancers, and non-Hodgkin lymphoma. Further multi-center, well-designed studies are required to validate our results.

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“…20 As a result, a total of 12 relevant studies (1 was a dissertation by a postgraduate student) met the inclusion criteria for the meta-analysis. 16 – 20 , 28 – 34 The main characteristics of the studies were presented in Table 1 . Among them, 11 studies with 4322 cases and 4970 controls were included for XPD Lys751Gln polymorphism and 6 studies with 2223 cases and 2441 controls were available for XPD Asp312Asn polymorphism.…”

Section: Resultsmentioning

confidence: 99%

“…However, the evidence was limited because they failed to include all eligible studies in the meta-analysis. 16 – 20 In addition, the source of heterogeneity was not extensively explored in this study. With respect to XPD Asp312Asn polymorphism, to the best of our knowledge, no meta-analyses on this issue have ever appeared.…”

Section: Introductionmentioning

confidence: 99%

Association Between XPD Lys751Gln and Asp312Asn Polymorphisms and Hepatocellular Carcinoma Risk

Peng

Lao

et al. 2014

Medicine

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Genetic polymorphisms of xeroderma pigmentosum group D (XPD) in the nucleotide excision repair pathway may influence cancer susceptibility by affecting the capacity for DNA repair. Studies investigating the association between XPD Lys751Gln and Asp312Asn polymorphisms and hepatocellular carcinoma (HCC) risk reported inconsistent results. The aim of this study was to quantitatively summarize the evidence for such an association.Eligible studies were identified by searching electronic databases including PubMed, Embase, Cochrane library, and CBM, Chinese Biomedical Literature Database, for the period up to October 2014. The association of XPD Lys751Gln and Asp312Asn polymorphisms and HCC risk was assessed by odds ratios (ORs) together with their 95% confidence intervals (CIs).Finally, a total of 11 studies with 4322 cases and 4970 controls were included for XPD Lys751Gln polymorphism and 6 studies with 2223 cases and 2441 controls were available for XPD Asp312Asn polymorphism. With respect to XPD Lys751Gln polymorphism, statistically significant increased HCC risk was found when all studies were pooled into the meta-analysis (Gln/Gln vs Lys/Lys: OR = 1.363, 95% CI 1.065–1.744, P = 0.014; Lys/Gln vs Lys/Lys: OR = 1.205, 95% CI 1.099–1.321, P = 0.000; Gln/Gln+Lys/Gln vs Lys/Lys: OR = 1.300, 95% CI 1.141–1.480, P = 0.000). In subgroup analyses by ethnicity, source of control, Hardy–Weinberg equilibrium (HWE) in controls, hepatitis B virus (HBV) infection, and statistically significant increase of HCC risk was found in East Asians, population-based studies, studies consistent with HWE, and HBV-positive subjects, but not in mixed/other populations, hospital-based studies, studies deviating from HWE, and HBV-negative subjects. With respect to XPD Asp312Asn polymorphism, no significant association with HCC risk was found in the overall and subgroup analyses.The results suggest that the XPD Lys751Gln polymorphism contributes to increased HCC susceptibility, especially in East Asian populations. Further, large and well-designed studies are required to validate this association.

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Implication of polymorphisms in DNA repair genes with an increased risk of hepatocellular carcinoma

Cited by 12 publications

References 17 publications

The association of six non‐synonymous variants in three DNA repair genes with hepatocellular carcinoma risk: a meta‐analysis

The association of six non‐synonymous variants in three DNA repair genes with hepatocellular carcinoma risk: a meta‐analysis

Association between the ERCC2 Asp312Asn polymorphism and risk of cancer

Association Between XPD Lys751Gln and Asp312Asn Polymorphisms and Hepatocellular Carcinoma Risk

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