Statistically significant association of the single nucleotide polymorphism (SNP) rs13181 (ERCC2) with predisposition to Squamous Cell Carcinomas of the Head and Neck (SCCHN) and Breast cancer in the north Indian population

Mitra, Amit; Singh, Neetu; Garg, Vivek Kumar; Chaturvedi, Rashmi; Sharma, Mahendra; Rath, Srikanta Kumar

doi:10.1186/1756-9966-28-104

Cited by 29 publications

(15 citation statements)

References 49 publications

(36 reference statements)

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“…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: Discussionmentioning

confidence: 99%

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: Discussionmentioning

confidence: 99%

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

Liu

et al. 2013

PLoS ONE

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“…Sturgis et al (2000) reported that 13181CC was associated with a borderline increased risk (adjusted OR = 1.55; 95%CI = 0.96-2.52) of SCCHN and it was higher in older subjects (OR = 2.22; 95%CI = 1.03-4.80) and current drinkers (OR = 2.59; 95%CI = 1.25-5.34). Mitra et al (2009) found statistically significant increased SCCHN risk in individuals with the variant genotypes of rs13181: (OR = 1.680, 95%CI 1.014 to 2.784), (OR = 1.531, 95%CI 1.092 to 2.149) and (OR = 1.560, 95%CI 1.128 to 2.158). The others came to a different conclusion.…”

Section: Discussionmentioning

confidence: 87%

“…A total of 15 eligible case-control studies on the association between XPD Lys751Gln polymorphism and HNC risk were included for this meta-analysis (Sturgis et al, 2000;Rydzanicz et al, 2005;Huang et al, 2005;Kietthubthew et al, 2006;Matullo et al, 2006;Ramachandran et al, 2006;Bau et al, 2007;Majumder et al, 2007;Harth et al, 2008;Abbasi et al, 2009;Mitra et al, 2009;Jelonek et al, 2010;Ji et al, 2010;Sliwinski et al, 2011). Table 1 presents the main characteristics of these studies.…”

Section: Study Characteristicmentioning

confidence: 99%

Association between XPD Lys751Gln polymorphism and risk of head and neck cancer: a meta-analysis

Yuan

Niu²,

Wang³

et al. 2011

Genet. Mol. Res.

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ABSTRACT. Several studies have investigated the association between Lys751Gln polymorphism in the xeroderma pigmentosum group D (XPD) gene and risk of head and neck cancer; however, the published results are conflicting. We conducted a meta-analysis that comprised 15 published case-control studies examining the association of head and neck cancer risk with XPD Lys751Gln polymorphism in different populations, based on the data identified in Medline up to November 2010. Odds ratios (ORs) with 95% confidence intervals (CI) were used to assess the strength of the association. Overall, significantly elevated head and neck cancer risk was associated with XPD Lys751Gln polymorphism when all studies were pooled into the meta-analysis [(Gln/Gln + Lys/ Gln) vs Lys/Lys: OR = 1.12, 95%CI = 1.03-1.22, P < 0.01, heterogeneity P = 0.11]. In the subgroup analysis by ethnicity, borderline significantly increased risk was found for Europeans [(Gln/Gln + Lys/Gln) vs Lys/ Lys: OR = 1.11, 95%CI = 1.00-1.23, P < 0.05]. In conclusion, our metaanalysis demonstrated that XPD Lys751Gln polymorphism could be a prediction marker for risk of head and neck cancer.

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“…ERCC2 (XPD) encodes a protein component of the TFIIH subunit which denatures the double helix of DNA in preparation for excision of bulky DNA adducts (6, 67). Over 20 previous case-control studies have studied rs13181 and HNC risk, with the majority finding null associations (8-12, 15, 17, 18, 20-23, 25, 26, 30, 31, 33-35, 37, 38, 45, 48). The largest study, based on data from the International Head and Neck Cancer Epidemiology Consortium, found no association between rs13181 and HNC risk (Gln/Gln vs. Lys/Lys, OR=1.03, 95% CI=0.88, 1.21) (15).…”

Section: Discussionmentioning

confidence: 99%

Single-Nucleotide Polymorphisms in Nucleotide Excision Repair Genes, Cigarette Smoking, and the Risk of Head and Neck Cancer

Wyss

Herring

Avery

et al. 2013

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background Cigarette smoking is associated with increased head and neck cancer (HNC) risk. Tobacco-related carcinogens are known to cause bulky DNA adducts. Nucleotide excision repair (NER) genes encode enzymes that remove adducts and may be independently associated with HNC, as well as modifiers of the association between smoking and HNC. Methods Using population-based case-control data from the Carolina Head and Neck Cancer Epidemiology Study (1,227 cases, 1,325 controls), race-stratified (white, African American) conventional and hierarchical logistic regression models were utilized to estimate odds ratios (OR) with 95% intervals (I) for the independent and joint effects of cigarette smoking and 84 single nucleotide polymorphisms (SNPs) from 15 NER genes on HNC risk. Results The odds of HNC were elevated among ever cigarette smokers, and increased with smoking duration and frequency. Among whites, rs4150403 on ERCC3 was associated with increased HNC odds (AA+AG vs. GG, OR=1.28, 95% I=1.01,1.61). Among African Americans, rs4253132 on ERCC6 was associated with decreased HNC odds (CC+CT vs. TT, OR=0.62, 95% I=0.45,0.86). Interactions between ever cigarette smoking and three SNPs (rs4253132 on ERCC6, rs2291120 on DDB2, and rs744154 on ERCC4) suggested possible departures from additivity among whites. Conclusions We did not find associations between some previously studied NER variants and HNC. We did identify new associations between two SNPs and HNC and three suggestive cigarette-SNP interactions to consider in future studies. Impact We conducted one of the most comprehensive evaluations of NER variants, identifying a few SNPs from biologically plausible candidate genes associated with HNC and possibly interacting with cigarette smoking.

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Statistically significant association of the single nucleotide polymorphism (SNP) rs13181 (ERCC2) with predisposition to Squamous Cell Carcinomas of the Head and Neck (SCCHN) and Breast cancer in the north Indian population

Abstract: Background: Non-synonymous single nucleotide polymorphisms (SNPs) within vital DNA repair genes may cause reduction of activity leaving the genome unrepaired resulting in genomic instability and cancer.

Cited by 29 publications

References 49 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

Association between XPD Lys751Gln polymorphism and risk of head and neck cancer: a meta-analysis

Single-Nucleotide Polymorphisms in Nucleotide Excision Repair Genes, Cigarette Smoking, and the Risk of Head and Neck Cancer

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