<i>XPC</i> polymorphisms and lung cancer risk

Lee, Ga Young; Jang, Jin Sung; Lee, Sin Yeob; Jeon, Hyo Sung; Kim, Kyung Mee; Choi, Jin Eun; Park, Jung Min; Chae, Myung Hwa; Lee, Won Kee; Kam, Sang-Kyu; Kim, In San; Lee, Jae Tae; Jung, Tae Hoon; Park, Jae Yong

doi:10.1002/ijc.20900

Cited by 83 publications

(80 citation statements)

References 23 publications

(37 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…First, the effect of XPC might be best represented by its haplotype. Among the nine studies that analyzed XPC haplotype, 30,33,34,37,39,42,47,50,54 six found some type of association with cancer risk for the haplotypes analyzed. However, in the present meta-analysis, it was not possible to use XPC haplotypes, due to the small number of studies that had information about haplotype frequencies.…”

Section: Discussionmentioning

confidence: 99%

XPC polymorphisms play a role in tissue-specific carcinogenesis: a meta-analysis

et al. 2008

View full text Add to dashboard Cite

XPC participates in the initial recognition of DNA damage during the DNA nucleotide excision repair process in global genomic repair. Polymorphisms in XPC gene have been analyzed in case-control studies to assess the cancer risk attributed to these variants, but results are conflicting. To clarify the impact of XPC polymorphisms in cancer risk, we performed a meta-analysis that included 33 published case-control studies. Polymorphisms analyzed were Lys939Gln and Ala499Val. The overall summary odds ratio (OR) for the associations of the 939Gln/Gln genotype with risk of cancer was 1.01 (95% confidence interval (95% CI): 0.94 -1.09), but there were statistically significant associations for lung cancer, observed for the recessive genetic model (Lys/Lys þ Lys/Gln vs Gln/Gln), (OR 1.30; 95% CI: 1.113 -1.53), whereas for breast cancer a reduced but nonsignificant risk was observed for the same model (OR 0.87; 95% CI: 0.74 -1.01). The results for Ala499Val showed a significant overall increase in cancer risk (OR 1.15; 95% CI: 1.02 -1.31), and for bladder cancer in both the simple genetic model (Ala/Ala vs Val/Val) (OR 1.30; 95% CI: 1.04-1.61) and the recessive genetic model (Ala/Ala þ Ala/Val vs Val/Val) (OR 1.32; 95% CI: 1.06-1.63). Our metaanalysis supports that polymorphisms in XPC may represent low-penetrance susceptibility gene variants for breast, bladder, head and neck, and lung cancer. XPC is a good candidate for large-scale epidemiological case-control studies that may lead to improvement in the management of highly prevalent cancers.

show abstract

Section: Discussionmentioning

confidence: 99%

XPC polymorphisms play a role in tissue-specific carcinogenesis: a meta-analysis

et al. 2008

View full text Add to dashboard Cite

show abstract

“…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%

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

Zhang

Chen

et al. 2007

J Hum Genet

View full text Add to dashboard Cite

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.

show abstract

“…AC090645). More than a hundred polymorphic variants in the XPC gene have been identified and the three most common polymorphisms are Ala499Val (C→T), PAT (-/+), and Lys939Gln (A→C), which have been associated with risks of many human malignancies, including cancers of lung, bladder, breast, esophagus, skin, oral cavity, and head and neck [8][9][10][11][12][13][14][15][16]. The PAT+ polymorphism was associated with increased risks of skin [8,9], head and neck [11], and esophageal cancer [17].…”

Section: Introductionmentioning

confidence: 99%

Modulation of DNA damage/DNA repair capacity by XPC polymorphisms

et al. 2008

View full text Add to dashboard Cite

XPC, a key protein in the nucleotide excision repair (NER) pathway, recognizes damaged DNA and initiates NER. Genetic variations in the XPC gene might be associated with altered DNA repair capacities (DRC). In this study, we genotyped three XPC polymorphisms, Ala499Val (C→T), PAT (-/+) and Lys939Gln (A→C), and measured the DNA damage/DRC by alkaline comet assay challenged by BPDE and gamma-radiation in 476 healthy subjects. We also evaluated the associations between DNA damage/DRC and genotypes of XPC polymorphisms. Compared with the XPC Lys939Gln homozygous wild type (AA) subjects, subjects with the variant alleles (AC and CC) had significantly higher DNA damages induced by BPDE (Median and 95% confidence interval [CI]: 3.16 (3.01-3.44) vs. 2.88 (2.51-3.05), P=0.01), and gamma-radiation (4.18(3.94-4.44) vs. 3.71 (3.49-4.04), P=0.01). However, subjects with the variant alleles (CT and TT) of Ala499Val exhibited a 8.6 % and 13.1% decrease in DNA damages induced by BPDE (P=0.05) and gamma-radiation (P=0.001), respectively. Significant correlations were found between genotypes and induced DNA damages in XPC Lys939Gln (For BPDE: R=0.12, P=0.01; for gamma-radiation: R=0.094, P=0.046) and Ala499Val (For BPDE: R=-0.11, P=0.03; for gamma-radiation: R=-0.16, P=0.0009). The haplotypes "T-A" (in the order of Ala499Val-PAT-Lys939Gln) was associated with the lowest DNA damages. Our results suggested that the DRC of host cells might be modulated by specific XPC polymorphisms.

show abstract

XPC polymorphisms and lung cancer risk

Cited by 83 publications

References 23 publications

XPC polymorphisms play a role in tissue-specific carcinogenesis: a meta-analysis

XPC polymorphisms play a role in tissue-specific carcinogenesis: a meta-analysis

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

Modulation of DNA damage/DNA repair capacity by XPC polymorphisms

Contact Info

Product

Resources

About