XRCC1 codon 280 and ERCC2 codon 751 polymorphisms and risk of esophageal squamous cell carcinoma in a Chinese population

Zhai, Xiandun; Mo, Yaonan; Xue, Xiao-Qi; Zhao, Gui-Sen; Gao, Linbo; Ai, Hui; Ye, Yi

doi:10.1684/bdc.2009.0952

Cited by 17 publications

(8 citation statements)

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“…There was no statistical difference between the amount of BPDE-DNA adducts and the minor alleles of ERCC2 rs13181 or rs1799793, which was inconsistent with data reported by Matullo G et al [53] in Italian, and by Hui Zhao et al [28] in non-Hispanic white participants. However, it was consistent with data reported by Zhai et al [54] in Chinese people. In contrast, Vineis P et al [5], Zhang J et al [55], Spitz MR et al [56] and Mitra AK et al [57] reported that ERCC2 rs13181 and rs1799793 minor alleles are risk factors to cancer development and associated with low DNA repair capacity.…”

Section: Discussionsupporting

confidence: 93%

ERCC1 and ERCC2 Haplotype Modulates Induced BPDE-DNA Adducts in Primary Cultured Lymphocytes

Liu

et al. 2013

PLoS ONE

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BackgroundBenzo[a]pyrene(B[a]P), and its ultimate metabolite Benzo[a]pyrene 7,8-diol 9,10-epoxide (BPDE), are classic DNA damaging carcinogens. DNA damage caused by BPDE is normally repaired by Nucleotide Excision Repair (NER), of which ERCC1 and ERCC2/XPD exert an indispensable role. Genetic variations in ERCC1 and ERCC2 have been related to DNA repair efficiency. In this study we used lymphocytes from healthy individuals to show that polymorphisms in ERCC1 and ERCC2 are directly associated with decreased DNA repair efficiency.Methods ERCC1 (rs3212986 and rs11615) and ERCC2 (rs13181, rs1799793 and rs238406) were genotyped in 818 healthy Han individuals from the northeast of China. BPDE induced DNA adducts in lymphocytes were assessed by high performance liquid chromatography (HPLC) in 282 randomly selected participants. The effect of ERCC1 rs3212986 and ERCC2 rs238406 on DNA damage caused by B[a]P was assessed with a modified comet assay.ResultsWe found that the variant genotypes of ERCC1 rs3212986 and ERCC2 rs238406 were associated with the high levels of BPDE-DNA adducts. Especially ERCC1 rs3212986 A-allele variant was significantly associated with the high BPDE-DNA adducts. Haplotype analysis showed that the ERCC1 haplotype AC (OR = 2.36, 95% CI = 1.84–2.97), ERCC2 haplotype AGA (OR = 1.51, 95% CI = 1.06–2.15) and haplotype block AGAAC (OR = 5.28, 95% CI = 2.95–9.43), AGCAC (OR = 1.35 95% CI = 1.13–1.60) were linked with high BPDE-DNA adducts. In addition, we found that the combined minor alleles of ERCC1 rs3212986 and ERCC2 rs238406 were associated with a reduced DNA repair capacity.ConclusionsOur results suggest that the variant genotypes of ERCC1 rs3212986 and ERCC2 rs238406 are associated with decreased repair efficiency of BPDE induced DNA damage, and may be predictive for an individual’s DNA repair capacity in response to environmental carcinogens.

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Section: Discussionsupporting

confidence: 93%

ERCC1 and ERCC2 Haplotype Modulates Induced BPDE-DNA Adducts in Primary Cultured Lymphocytes

Liu

et al. 2013

PLoS ONE

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“…Our study shows no association of the ERCC2 Lys751Gln polymorphism with the risk of LC and also of NPC, although Zhai et al. , reported a decreased risk of HNC in carriers of the ERCC2 751Gln variant in Asians. Several other studies found no association or even an increased HNC risk of the ERCC2 751Gln variant .…”

Section: Discussioncontrasting

confidence: 83%

DNA repair gene polymorphisms and risk of head and neck cancer in the Tunisian population

Khlifi

Kallel

Hammami

et al. 2013

J Oral Pathology Medicine

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Altered activity of DNA repair enzymes may be involved in modulating cancer susceptibility and pathogenesis of head and neck cancer (HNC). We conducted a case-control study to test the association between three common single-nucleotide polymorphisms of XRCC1, ERCC2, and ERCC3 genes with HNC risk in Tunisian patients. To the best of our knowle dge, this is the first report on polymorphisms in XRCC1, ERCC2, and ERCC3 and susceptibility to HNC in our population. The genotype analyses of XRCC1 Arg399Gln, ERCC2 Lys751Gln, and ERCC3 7122 A>G polymorphisms for 169 HNC patients, and 261 controls were performed using the PCR-based restriction fragment length polymorphism. Stratification of the populations according to smoking and drinking habits and occupational exposure highlighted the importance of tobacco, alcohol, and toxic substance as three risk co-factors for the development of HNC. Our study suggests that only the XRCC1 Arg399Gln polymorphism was associated with the risk of HNC in the Tunisian population (OR = 2.04; P = 0.001). Furthermore, the risk of HNC was associated with XRCC1 Arg399Gln polymorphism stratified by occupational exposure status (OR = 2.29; P = 0.024). However, no statistically significant association was observed between the risk of developing HNC and the ERCC2 Lys751Gln and ERCC3 A>G polymorphisms. These data suggest that the XRCC1 Arg399Gln polymorphism is associated with an increased risk of developing HNC, because it correlates with occupational exposure in Tunisian population.

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“…60 A study on the Chinese population reported no association between p.Arg280His polymorphism and ESCC. 81 XRCC2, an essential protein in the HRR pathway is required for the formation of RAD51 focus, with involvement in tumor progression. 13 No association of XRCC2 p. Arg188His with EC has been observed in the present study, which is the first report from India for esophageal cancer risk.…”

Section: Discussionmentioning

confidence: 99%

Association of XRCC1, XRCC2 and XRCC3 Gene Polymorphism with Esophageal Cancer Risk

Kaur¹,

Sambyal²,

Guleria³

et al. 2020

CEG

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The X-ray repair cross-complementing (XRCC) gene polymorphisms influence esophageal carcinogenesis by altering the DNA repair capacity. The present study was designed to screen five single nucleotide polymorphisms (SNPs) of XRCC genes for their susceptibility to esophageal cancer (EC) risk. There is no previous report on these polymorphisms for EC from India, where EC frequency is high. Methods: The present study included 497 subjects (213 EC patients and 284 healthy controls). The polymorphisms were screened using the PCR-RFLP method and allele and genotype distribution were compared using chi-square test. Association analysis was done by haplotype analysis and linkage disequilibrium (LD) analysis. Gene-gene interactions were identified using multifactor dimensionality reduction (MDR). The risk was calculated using binary logistic regression. Results: For XRCC1 p.Arg399Gln, a decreased risk for EC was associated with the AA genotype [OR (95% CI): 0.53 (0.3-0.95), p=0.03] even after adjusting for various covariates [OR (95% CI): 0.49 (0.26-0.9), p=0.024] and with the recessive model [OR (95% CI): 0.49 (0.27-0.8), p=0.016]. The GA genotype of p.Arg280His was associated with an increased risk for EC [OR (95% CI): 1.7 (1.0-2.82), p= 0.045] after adjustments. The two XRCC1 polymorphisms, p.Arg399Gln and p.Arg194Trp were in slight LD among EC patients (D ̍́= 0.845, r 2 =0.042). XRCC2 and XRCC3 polymorphisms were not associated with EC risk. Conclusion: XRCC1 p.Arg399Gln plays a protective role in the development of the EC. The study is the first report from India, providing baseline data about genetic polymorphisms in DNA repair genes XRCC1, XRCC2 and XRCC3 modulating overall EC risk.

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XRCC1 codon 280 and ERCC2 codon 751 polymorphisms and risk of esophageal squamous cell carcinoma in a Chinese population

Cited by 17 publications

References 0 publications

ERCC1 and ERCC2 Haplotype Modulates Induced BPDE-DNA Adducts in Primary Cultured Lymphocytes

ERCC1 and ERCC2 Haplotype Modulates Induced BPDE-DNA Adducts in Primary Cultured Lymphocytes

DNA repair gene polymorphisms and risk of head and neck cancer in the Tunisian population

<p>Association of <em>XRCC1</em>, <em>XRCC2</em> and <em>XRCC3</em> Gene Polymorphism with Esophageal Cancer Risk</p>

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