Polymorphisms in the DNA nucleotide excision repair genes and lung cancer risk in Xuan Wei, China

Shen, Min; Berndt, Sonja I.; Rothman, Nathaniel; DeMarini, David M.; Mumford, Judy L.; He, Xingzhou; Bonner, Matthew R.; Tian, Linwei; Yeager, Meredith; Welch, Robert W.; Chanock, Stephen J.; Zheng, Tongzhang; Caporaso, Neil E.; Lan, Qing

doi:10.1002/ijc.21117

Cited by 127 publications

(145 citation statements)

References 30 publications

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“…Regarding the combined exposure with smoking and alcohol, 249Val carriers showed no risk effect in the low exposure group but a 2.6-fold increase in risk with high exposure. The contribution of the RAD23B 249Val variant to laryngeal cancer risk was reflected in the gene-gene interaction analysis, an effect similar to those reported previously by Shen et al 29 in lung cancer. The RAD23B and XPC proteins work together as a complex in DNA damage identification in the GGR pathway.…”

Section: Discussionsupporting

confidence: 84%

Laryngeal cancer risk associated with smoking and alcohol consumption is modified by genetic polymorphisms in ERCC5, ERCC6 and RAD23B but not by polymorphisms in five other nucleotide excision repair genes

Abbasi

Ramroth

Becher

et al. 2009

Intl Journal of Cancer

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Laryngeal cancer is known to be associated with smoking and high alcohol consumption. Nucleotide excision repair (NER) plays a key role in repairing DNA damage induced by these exposures and might affect laryngeal cancer susceptibility. In a populationbased case-control study including 248 cases and 647 controls, the association of laryngeal cancer with 14 single nucleotide polymorphisms (SNPs) in 8 NER genes (XPC, XPA, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6 and RAD23B) was analyzed with respect to smoking and alcohol exposure. For genotyping, sequence specific hybridization probes were used. Data were evaluated by conditional logistic regression analysis, stratified for age and gender, and adjusted for smoking, alcohol consumption and education. Pro-carriers of ERCC6 Arg1230Pro showed a decreased risk for laryngeal cancer (OR 5 0.53, 95% CI 0.34-0.85), strongest in heavy smokers and high alcohol consumers. ERCC5 Asp1104His was associated with risk in heavy smokers (OR 5 1.70, 95% CI 1.1-2.5). Val-carriers of RAD23B Ala249Val had an increased cancer risk in heavy smokers (OR 5 1.6, 95% CI 1.1-2.5) and high alcohol consumers (OR 5 2.0, 95% CI 1.1-3.4). The combined effect of smoking and alcohol intake affected risk, at high exposure level, for ERCC6 1230Pro carriers (OR 5 0.47, 95% CI 0.22-0.98) and RAD23B 249Val carriers (OR 5 2.6, 95% CI 1.3-4.9). When tested for gene-gene interaction, presence of 3 risk alleles in the XPC-RAD23B complex increased the risk 2.1-fold. SNPs in the other genes did not show a significant association with laryngeal cancer risk. We conclude that common genetic variations in NER genes can significantly modify laryngeal cancer risk. ' UICCKey words: genetic variation; population-based case-control study; haplotype; cancer susceptibility; gene-environment interaction Laryngeal cancer is the most frequent form of head and neck cancers in Germany and the second most common form of respiratory tract cancers in the US. 1,2 The average age of onset of the disease is 64 years and it is more common in males than in females (6:1 ratio).Cigarette smoking and alcohol consumption are well acknowledged risk factors for laryngeal cancer. [3][4][5][6][7] Cancer risk is directly related with duration and number of cigarettes smoked, and considerably increased in individuals consuming more than 50 g of alcohol per day. Tobacco smoke contains many carcinogens including a group of N-nitrosamines that produce carcinogenic methyl and pyridyloxobutyl DNA adducts. 8 A further constituent of tobacco smoke is the highly toxic acetaldehyde 9,10 which produces genotoxic 1,N 2 -propano-2 0 -deoxyguanosine DNA adducts. 9,11 Acetaldehyde is also an intermediate product of ethanol metabolism and its concentration increases in a multiplicative manner in individuals who are simultaneously smoking and drinking alcohol. 12 This observation might explain the synergistic and multiplicative effect found for alcohol and smoking in laryngeal cancer risk. 3,7 DNA repair is of fundamental importance in maintaining genomic stabilit...

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Section: Discussionsupporting

confidence: 84%

Laryngeal cancer risk associated with smoking and alcohol consumption is modified by genetic polymorphisms in ERCC5, ERCC6 and RAD23B but not by polymorphisms in five other nucleotide excision repair genes

Abbasi

Ramroth

Becher

et al. 2009

Intl Journal of Cancer

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“…The study is shown by a point estimate of the odds ratio (OR) and the accompanying 95% confidence interval (CI) using a fixed-effects model. n indicates the total number of TT (a) or ++ (b); N indicates the total number of individuals evaluated the combined effect of XPC A33512C, C21151T, and PAT -/+ or two of these three polymorphisms (Blankenburg et al 2005;Hu et al 2005;Huang et al 2006;Li et al 2006;Sak et al 2005;Shen et al 2005;Weiss et al 2005;Zhu et al 2007). Hu et al (2005) examined the combined effect of XPC A33512C and C21151T on lung cancer risk.…”

Section: Discussionmentioning

confidence: 99%

“…Through literature search and selection based on the inclusion criteria, 32 articles (37 studies) were found, and 28 articles (Bai et al 2007;Blankenburg et al 2005;Casson et al 2005;De Ruyck et al 2007;Festa et al 2005;Hansen et al 2007;Hirata et al 2007;Hu et al 2005;Huang et al 2006;Kietthubthew et al 2006;Lee et al 2005;Li et al 2006;Marin et al 2004;Mechanic et al 2006;Nelson et al 2005;Sak et al 2005Sak et al , 2006Sanyal et al 2004;Shen et al 2001Shen et al , 2005Sugimura et al 2006;Vogel et al 2005;Wang et al 2006;Weiss et al 2005;Yang et al 2005;Ye et al 2006;Zhou et al 2006;Zhu et al 2007) (32 studies) met our inclusion criteria, as listed in Table 1. One study of A33512C (Hirata et al 2006) reported an extremely high variant allele frequency, which may result from wrong allele counting or poor genotyping quality, and was finally excluded from our meta-analysis.…”

Section: Study Inclusionmentioning

confidence: 99%

“…Among the 28 eligible articles, 18 articles (Bai et al 2007;Blankenburg et al 2005;Festa et al 2005;Hansen et al 2007;Hirata et al 2007;Hu et al 2005;Huang et al 2006;Kietthubthew et al 2006;Lee et al 2005;Li et al 2006;Mechanic et al 2006;Sak et al 2005;Sanyal et al 2004;Vogel et al 2005;Weiss et al 2005;Ye et al 2006;Zhou et al 2006;Zhu et al 2007) (23 studies) described A33512C, ten articles (Bai et al 2007;Hu et al 2005;Huang et al 2006;Lee et al 2005;Li et al 2006;Sak et al 2006;Shen et al 2005;Weiss et al 2005;Zhou et al 2006;Zhu et al 2007) (11 studies) described C21151T, and 13 articles (Blankenburg et al 2005;Casson et al 2005;De Ruyck et al 2007;Kietthubthew et al 2006;Li et al 2006;Marin et al 2004;Nelson et al 2005;Sak et al 2005;Shen et al 2001;Sugimura et al 2006;Wang et al 2006;Yang et al 2005;Zhu et al 2007) (14 studies) described PAT -/+; 82.1% (23/28) stated that the age and gender status were matched between case and control popul...…”

Section: Study Inclusionmentioning

confidence: 99%

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A meta-analysis of DNA repair gene XPC polymorphisms and cancer risk

Zhang

Chen

et al. 2007

J Hum Genet

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Polymorphisms (A33512C, C21151T and PAT -/+) of the xeroderma pigmentosum group C (XPC) were shown to contribute to genetic susceptibility to cancer. However, association studies on these polymorphisms in cancer have shown conflicting results. Thus, we performed a meta-analysis. Overall, there was no significant association between 33512C (9,091 patients and 11,553 controls) and cancer risk. No significant association was found in stratification analysis by tumor sites and ethnicities except an elevated lung cancer risk under the recessive genetic model in all subjects [P = 0.04, odds ratio (OR) = 1.20, 95% confidence interval (CI) 1.00-1.45, P heterogeneity = 0.88]. There was no significant association between 21151T (5,227 patients and 5,959 controls) and cancer risk in all subjects but an increased cancer risk in Caucasians under the recessive genetic model (P = 0.006, OR = 1.45, 95% CI 1.11-1.90, P heterogeneity = 0.75) and homozygote comparison (P = 0.02, OR = 1.41, 95% CI 1.07-1.81, P heterogeneity = 0.41). It might be that 21151T increases bladder cancer risk under the recessive genetic model (P = 0.02, OR = 1.49, 95% CI 1.06-2.09, P heterogeneity = 0.47) and homozygote comparison (P = 0.02, OR = 1.49, 95% CI 1.05-2.11, P heterogeneity = 0.23). There was no significant association between PAT + (4,600 patients and 4,866 controls) and cancer risk in all subjects. An increased cancer risk in Caucasians was found under the recessive genetic model (P = 0.02, OR = 1.20, 95% CI 1.03-1.40, P heterogeneity = 0.37) and homozygote comparison (P = 0.008, OR = 1.26, 95% CI 1.06-1.50, P heterogeneity = 0.13). The XPC PAT + allele might increase head and neck cancer risk (P = 0.02, OR = 1.29, 95% CI 1.04-1.59, P heterogeneity = 0.15). More studies based on larger, stratified, case-control population, especially studies investigate the combined effect of XPC A33512C, C21151T, and PAT, are required to further evaluate the role of these polymorphisms in different cancers.

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“…The rs1799801 T4C (S835S) was directly selected from public SNP databases, because it was within the coding region (Shen et al, 2005). The rs744154 was forced into the selection, because it has been reported to be associated with breast cancer risk (Milne et al, 2006).…”

Section: Snp Selection Identification and Genotypingmentioning

confidence: 99%

A novel XPF −357A>C polymorphism predicts risk and recurrence of bladder cancer

Wang

Yuan

et al. 2010

Oncogene

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Xeroderma pigmentosum group F (XPF) has an essential role in the nucleotide excision repair pathway that removes a wide variety of DNA lesions. We hypothesized that genetic variants in XPF are associated with bladder cancer risk and recurrence. We selected three tagging single nucleotide polymorphisms (tagSNPs) from the HapMap database for the Chinese and genotyped them in a two-stage case-control study to evaluate the association and further examined the functionality of a novel polymorphism in the promoter. The two-stage analysis found that the rs744154 tagSNP in the XPF intron 1, which was linkage disequilibrium with the -357A4C polymorphism in the promoter region, was associated with a protective effect on bladder cancer risk. Electrophoretic mobility shift assay (EMSA) further revealed that the -357C allele decreased the binding ability of transcriptional factors to the XPF promoter. The vector construct containing the -357C allele had a lower luciferase expression than did the -357A allele. The -357C allele in the transcription factor-binding site was also associated with decreased expression levels of both XPF mRNA and protein in bladder cancer tissues. Furthermore, patients with the -357C allele had a shorter overall recurrence-free survival than did patients with the -357A allele. Our results suggest that the XPF promoter -357A4C polymorphism may regulate the expression of XPF and thereby contribute to susceptibility to and prognosis of bladder cancer. Further larger studies with different populations are warranted to confirm these findings.

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Polymorphisms in the DNA nucleotide excision repair genes and lung cancer risk in Xuan Wei, China

Cited by 127 publications

References 30 publications

Laryngeal cancer risk associated with smoking and alcohol consumption is modified by genetic polymorphisms in ERCC5, ERCC6 and RAD23B but not by polymorphisms in five other nucleotide excision repair genes

Laryngeal cancer risk associated with smoking and alcohol consumption is modified by genetic polymorphisms in ERCC5, ERCC6 and RAD23B but not by polymorphisms in five other nucleotide excision repair genes

A meta-analysis of DNA repair gene XPC polymorphisms and cancer risk

A novel XPF −357A>C polymorphism predicts risk and recurrence of bladder cancer

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