Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk

Ruyck, Kim De; Szaumkessel, Marcin; Rudder, Isabelle De; Dehoorne, Annelore; Vral, Anne; Claes, Kathleen; Velghe, Anja; Meerbeeck, Jan Van; Thierens, Hubert

doi:10.1016/j.mrgentox.2007.03.010

Cited by 193 publications

(132 citation statements)

References 37 publications

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“…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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Section: Study Inclusionmentioning

confidence: 99%

Section: Study Inclusionmentioning

confidence: 99%

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

Zhang

Chen

et al. 2007

J Hum Genet

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“…5 To date, a number of molecular epidemiological studies have been done to evaluate the association between XPA À4G>A polymorphism and different types of cancer risk in diverse populations. The tumor types included lung cancer, 6,13,22,24,[29][30][31][32][33][34] gastric cancer, 7,17 colorectal cancer, 8,12,23 squamous cell carcinoma of the head and neck, 8,10 basal and squamous cell carcinomas of the skin (BCC and SCC), 20,27 breast cancer, 8,18,26 esophageal cancer, 11,14,15 and so on. However, the results were inconsistent or even contradictory.…”

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confidence: 99%

Genetic variation of XPA gene and risk of cancer: A systematic review and pooled analysis

Ding

Zhang

et al. 2011

Intl Journal of Cancer

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XPA, a zinc-finger DNA-binding protein, play an important role in both global genome and transcription-coupled repair pathways. XPA 24G>A polymorphism was identified in the 5 0 noncoding region, located four nucleotides upstream of the ATG start codon. Previous studies have shown that this polymorphism may affect mRNA tertiary structure and stability and play a role in susceptibility to cancer. However, the results remained controversial. To derive a more precise estimation of association between this polymorphism and risk of different types of cancer, we performed a meta-analysis based on 36 case-control or case-cohort studies, including a total of 11,700 cases and 15,033 controls. We used odds ratios with 95% confidence intervals to assess the strength of the association. Overall, no significantly elevated cancer risk was found in all genetic models when eligible studies were pooled into the meta-analysis. In the stratified analyses, we found that individuals with A-allele had a higher risk of lung cancer (AA versus GG: OR 5 1.25, 95% CI 5 1.09-1.43; recessive model: OR 5 1.31, 95% CI 5 1.16-1.48). When stratified by ethnicity, significantly elevated risks were observed among Asian populations (AA versus GG: OR 5 1.31, 95% CI 5 1.01-1.70; dominant model: OR 5 1.14, 95% CI 5 1.00-1.30). This meta-analysis suggests that XPA 24G>A polymorphism is associated with increased lung cancer risk and may be a low-penetrant risk factor in Asian ethnicity for cancer development.

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“…Subgroup analyses were performed to explore and explain the diversity among the results of different studies and to evaluate ethnicityspecific effects. There was only 1 study aiming at Europe (De Ruyck et al, 2007), and the result of the ethnicityspecific subgroup analysis was not performed for Europeans. Sensitivity analysis was performed using the values from the random effect model compared to the values from the fixed effect model.…”

Section: Discussionmentioning

confidence: 99%

Association between the -77T>C polymorphism in the DNA repair gene XRCC1 and lung cancer risk

Sun

et al. 2014

Genet. Mol. Res.

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ABSTRACT. Numerous studies have evaluated the association be tween the Xray repair crosscomplementing group 1 (XRCC1) DNA repair gene polymorphism 77T>C and lung cancer risk. However, this association is controversial. We used PubMed and Embase to identify 5 casecontrol studies, which included 2488 lung cancer cases and 2576 controls, for inclusion in a comprehensive metaanalysis in order to assess this association. Two independent reviewers extracted data from the studies, and ORs with 95%CIs were calculated. When all studies were pooled, we found a significant association between the 77T>C polymorphism and lung cancer risk (TT vs CC: OR = 0.52, 95%CI = 0.340.80, P = 0.49; TT vs CT: OR = 0.71, 95%CI = 0.620.81, P = 0.69; dominant model: OR = 1.45, 95%CI = 1.271.66, P = 0.64; recessive model: OR = 0.54, 95%CI = 0.360.82, P = 0.24). In a subgroup analysis of nationalities, the 77T>C polymorphism was significantly associated with lung cancer risk in Asian patients. In conclusion, the XRCC1 77T>C polymorphism might be related to increased risk of lung cancer in Asians. Future studies are needed for conclusive evidence about this association.

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Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk

Cited by 193 publications

References 37 publications

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

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

Genetic variation of XPA gene and risk of cancer: A systematic review and pooled analysis

Association between the -77T>C polymorphism in the DNA repair gene XRCC1 and lung cancer risk

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