Polymorphisms of DNA repair genes <i>XRCC1</i> and <i>XPD</i> and their associations with risk of esophageal squamous cell carcinoma in a Chinese population

Xing, Deyin; Qi, Jun; Miao, Xiaoping; Lu, Wenfu; Tan, Wen; Lin, Dong

doi:10.1002/ijc.10528

Cited by 114 publications

(82 citation statements)

References 39 publications

(56 reference statements)

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“…There have been studies showing an increased risk of esophageal squamous cell carcinoma in the presence of certain BER SNPs [12,29,31,32]. However, in our population of patients, we found no significant increase in risk for several individual BER SNPs or in a joint analysis under any model of inheritance.…”

Section: Discussioncontrasting

confidence: 87%

“…We also extend our findings to include novel positive associations with two other NER SNPs (ERCC1 8092C/A and ERCC1 118C/T). These findings are in keeping with the known association between NER pathway polymorphisms and alterations in DNA repair capacity [15,16,20,37], and in turn, the increased risk of various cancers associated with diminished repair capacity (e.g., squamous cell carcinoma of the esophagus [12,29,31], lung cancer [18,20,21], breast cancer [17,19], prostate cancer [14], and malignant melanoma [15]). ERCC1 8092C/A has been found to have positive associations in breast cancer risk [38,39], glioma risk [40], and a gene-smoking interaction in lung cancer risk [41].…”

Section: Discussionsupporting

confidence: 79%

“…The SNPs were XPD Lys751Gln, XPD Asp312Asn, ERCC1 8092C/A, and ERCC1 118C/T in the NER pathway, and XRCC1 Arg399Gln, APE1 Asp148Glu and hOGG1 Ser326Cys in the BER pathway. Although a number of studies have examined a selection of these polymorphisms in relation to other cancers, including esophageal squamous cell carcinoma [28][29][30][31][32], an evaluation of these two pathways has not been reported comprehensively for esophageal adenocarcinoma.…”

Section: Introductionmentioning

confidence: 99%

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Polymorphisms of the NER pathway genes, ERCC1 and XPD are associated with esophageal adenocarcinoma risk

Tse

Zhai

Zhou

et al. 2008

Cancer Causes Control

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Purpose-Functional variation in DNA repair capacity through single nucleotide polymorphisms (SNPs) of key repair genes is associated with a higher risk of developing various types of cancer. Studies have focused on the nucleotide excision repair (NER) and base excision repair (BER) pathways. We investigated whether variant alleles in seven SNPs within these pathways increased the risk of esophageal adenocarcinoma. NIH Public Access Author ManuscriptCancer Causes Control. Author manuscript; available in PMC 2011 June 1. Results-Variant alleles in NER SNPs XPD Lys751Gln (AOR = 1.50, 95% CI 1.1-2.0), ERCC1 8092 C/A (AOR = 1.44, 95% CI 1.1-1.9), and ERCC1 118C/T (AOR = 1.42, 95% CI 1.0-1.9) were individually associated with esophageal adenocarcinoma risk. An increasing number of variant alleles in NER SNPs showed a significant trend with esophageal adenocarcinoma risk (p = 0.007).Conclusions-The presence of variant alleles in NER genes increases risk of esophageal adenocarcinoma. There is evidence of an additive role for SNPs along a common DNA repair pathway. Future larger studies of esophageal adenocarcinoma etiology should evaluate entire biological pathways.

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Section: Discussioncontrasting

confidence: 87%

Section: Discussionsupporting

confidence: 79%

Section: Introductionmentioning

confidence: 99%

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Polymorphisms of the NER pathway genes, ERCC1 and XPD are associated with esophageal adenocarcinoma risk

Tse

Zhai

Zhou

et al. 2008

Cancer Causes Control

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“…Approximately, 30% DNA samples from cases were isolated from surgically resected normal tissues adjacent to the tumors of lung cancer patients. XRCC1 genotypes were analysed by PCR-RFLP methods as described previously (Sturgis et al, 1999;Xing et al, 2002;Hao et al, 2004). The PCR primers for amplifying DNA fragment containing the À77T/C (rs3213245), 194Arg/Trp (rs1799782), 280Arg/His (rs25489), or 399Arg/Gln (rs25487) site were…”

Section: Genotype Analysismentioning

confidence: 99%

A novel T-77C polymorphism in DNA repair gene XRCC1 contributes to diminished promoter activity and increased risk of non-small cell lung cancer

et al. 2006

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X-ray repair cross-complementing 1 (XRCC1) plays a key role in DNA base excision repair and cells lacking its activity are hypersensitive to DNA damage. Recently, we reported a SNP (rs3213245, À77T>C) in the XRCC1 gene 5 0 untranslated region (UTR) was significantly associated with the risk of developing esophageal squamous-cell carcinoma. Computer analysis predicted that this SNP was in the core of Sp1-binding motif, which suggested its functional significance. Gel shift and super shift assays confirmed that À77T>C polymorphic site in the XRCC1 promoter was within the Sp1-binding motif and the T>C substitution greatly enhanced the binding affinity of Sp1 to this region. Luciferase assays indicated that the Sp1-high-affinity C-allelic XRCC1 promoter was associated with a reduced transcriptional activity. The association between À77T>C and three other amino-acid substitution-causing polymorphisms in XRCC1 and risk of lung cancer was examined in 1024 patients and 1118 controls and the results showed that only the À77T>C polymorphism was significantly associated with an increased risk of developing lung cancer. Multivariate logistic regression analysis found that an increased risk of lung cancer was associated with the variant XRCC1 À77 genotypes (TC and CC) compared with the TT genotype (OR ¼ 1.46, 95% CI ¼ 1.18-1.82; P ¼ 0.001) and the increased risk was more pronounced in smokers (OR ¼ 1.63, 95% CI ¼ 1.20-2.21) than in non-smokers (OR ¼ 1.28, 95% CI ¼ 0.94-1.76). Taken together, these results showed that the functional SNP À77T>C in XRCC1 5 0 UTR was associated with cancer development owing to the decreased transcriptional activity of C-allelecontaining promoter with higher affinity to Sp1 binding.

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“…[17][18][19][20][21][22][23][24][25] Individual studies may have been underpowered to detect the effect of polymorphisms on the susceptibility of EC. Given the amount of accumulated data, we performed a quantitative synthesis of the evidence on the association of genetic polymorphisms with the developing risk of esophageal squamous cell carcinoma (ESCC), which is the dominant pathological type of EC in Chinese population.…”

mentioning

confidence: 99%

XRCC1 gene polymorphisms and esophageal squamous cell carcinoma risk in Chinese population: A meta‐analysis of case–control studies

Dai

Wang

Zhang

et al. 2009

Intl Journal of Cancer

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Two non-synonymous polymorphisms Arg194Trp and Arg399Gln in the DNA-base excision repair gene X-ray repair cross-complementing group 1 (XRCC1) have been implicated in risk for esophageal cancer. However, the results from different studies remain controversial. The present meta-analysis of literatures was performed to clarify these associations in Chinese population. A comprehensive literature search was conducted to identify all case-control studies of XRCC1 polymorphisms Arg194Trp and Arg399Gln and risk for esophageal squamous cell carcinoma (ESCC). A total of 9 eligible studies, including 1,538 ESCC cases and 2,472 controls, were identified to the meta-analysis. The odds ratio (OR) for the variant homozygous genotype Trp/Trp of the Arg194Trp polymorphism, compared with the wild-type homozygote Arg/Arg, was 1.59 (p 5 0.0007), with 95% confidence interval (95% CI) 1.22-2.09, for ESCC risk without between-study heterogeneity. However, there was no statistically significant associations of ESCC risk in the dominant model Arg/Trp1Trp/Trp (OR 0.97; 95% CI 0.84-1.12; p 5 0.69) and heterozygous genotype Arg/Trp (OR 0.90; 95% CI 0.77-1.04; p 5 0.16) when comparing with wild-type genotype Arg/Arg. For Arg399Gln, there was no effect in dominant modeling (Arg/Gln1Gln/Gln vs. Arg/Arg: OR 0.92; 95% CI 0.80-1.06; p 5 0.25), and the variant Gln/Gln homozygote was not associated with ESCC risk (OR 1.29; 95% CI 0.79-2.10; p 5 0.31), either. In conclusion, Arg194Trp genetic polymorphism may be associated with an increased risk for developing ESCC and a study with the larger sample size is needed to further evaluate gene-environment interaction on XRCC1 polymorphisms and ESCC risk. ' 2009 UICC

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Polymorphisms of DNA repair genes XRCC1 and XPD and their associations with risk of esophageal squamous cell carcinoma in a Chinese population

Cited by 114 publications

References 39 publications

Polymorphisms of the NER pathway genes, ERCC1 and XPD are associated with esophageal adenocarcinoma risk

Polymorphisms of the NER pathway genes, ERCC1 and XPD are associated with esophageal adenocarcinoma risk

A novel T-77C polymorphism in DNA repair gene XRCC1 contributes to diminished promoter activity and increased risk of non-small cell lung cancer

XRCC1 gene polymorphisms and esophageal squamous cell carcinoma risk in Chinese population: A meta‐analysis of case–control studies

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