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Published in: Tumor Biology 12/2015

01-12-2015 | Research Article

Effect of ERCC8 tagSNPs and their association with H. pylori infection, smoking, and alcohol consumption on gastric cancer and atrophic gastritis risk

Authors: Jing-jing Jing, Li-ping Sun, Qian Xu, Yuan Yuan

Published in: Tumor Biology | Issue 12/2015

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Abstract

Excision repair cross-complementing group 8 (ERCC8) plays a critical role in DNA repair. Genetic polymorphisms in ERCC8 may contribute to the risk of cancer development. We selected tag single nucleotide polymorphisms (tagSNPs) in Chinese patients from the HapMap database to investigate associations with gastric cancer and its precursors. Genomic DNA was extracted from 394 controls, 394 atrophic gastritis, and 394 gastric cancer cases in northern Chinese patients, and genotypes were identified using the Sequenom MassARRAY system. We found that the ERCC8 rs158572 GG+GA genotype showed a 1.651-fold (95 % confidence interval (CI) = 1.109–2.457, P = 0.013) increased risk of gastric cancer compared with the AA genotype, especially in diffuse type. Stratified analysis comparing the common genotype revealed significantly increased gastric cancer risk in males and individuals older than 50 years with rs158572 GA/GG/GG+GA genotypes, while individuals older than 50 years with rs158916 CT/CC+CT genotypes were less susceptible to atrophic gastritis. Haplotype analysis showed that the G-T haplotype was associated with increased risk of gastric cancer. Statistically significant interactions between the two ERCC8 tagSNPs and Helicobacter pylori infection were observed for gastric cancer and atrophic gastritis risk (P < 0.05). Smokers and drinkers with ERCC8 rs158572 GG+GA genotype were more susceptible to gastric cancer compared with non-smokers and non-drinkers homozygous for AA. Our findings suggested that ERCC8 rs158572 and rs158916, alone or together with environmental factors, might be associated with gastric cancer and atrophic gastritis susceptibility. Further validation of our results in larger populations along with additional studies evaluating the underlying molecular function is required.
Literature
1.
go back to reference Siegel R, Ward E, Brawley O, Jemal A. Cancer statistics, 2011: the impact of eliminating socioeconomic and racial disparities on premature cancer deaths. CA Cancer J Clin. 2011;61:212–36.CrossRefPubMed Siegel R, Ward E, Brawley O, Jemal A. Cancer statistics, 2011: the impact of eliminating socioeconomic and racial disparities on premature cancer deaths. CA Cancer J Clin. 2011;61:212–36.CrossRefPubMed
2.
5.
go back to reference Palli D, Polidoro S, D’Errico M, Saieva C, Guarrera S, et al. Polymorphic DNA repair and metabolic genes: a multigenic study on gastric cancer. Mutagenesis. 2010;25:569–75.CrossRefPubMed Palli D, Polidoro S, D’Errico M, Saieva C, Guarrera S, et al. Polymorphic DNA repair and metabolic genes: a multigenic study on gastric cancer. Mutagenesis. 2010;25:569–75.CrossRefPubMed
6.
go back to reference Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, et al. Environmental and heritable factors in the causation of cancer—analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med. 2000;343:78–85.CrossRefPubMed Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, et al. Environmental and heritable factors in the causation of cancer—analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med. 2000;343:78–85.CrossRefPubMed
7.
go back to reference Berwick M, Vineis P. Markers of DNA repair and susceptibility to cancer in humans: an epidemiologic review. J Natl Cancer Inst. 2000;92:874–97.CrossRefPubMed Berwick M, Vineis P. Markers of DNA repair and susceptibility to cancer in humans: an epidemiologic review. J Natl Cancer Inst. 2000;92:874–97.CrossRefPubMed
8.
go back to reference Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, et al. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell. 1995;82:555–64.CrossRefPubMed Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, et al. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell. 1995;82:555–64.CrossRefPubMed
9.
go back to reference Boraz RA. Cockayne’s syndrome: literature review and case report. Pediatr Dent. 1991;13:227–30.PubMed Boraz RA. Cockayne’s syndrome: literature review and case report. Pediatr Dent. 1991;13:227–30.PubMed
10.
go back to reference Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, et al. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum Mutat. 2010;31:113–26.CrossRefPubMed Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, et al. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum Mutat. 2010;31:113–26.CrossRefPubMed
11.
go back to reference Fousteri M, Mullenders LH. Transcription-coupled nucleotide excision repair in mammalian cells: molecular mechanisms and biological effects. Cell Res. 2008;18:73–84.CrossRefPubMed Fousteri M, Mullenders LH. Transcription-coupled nucleotide excision repair in mammalian cells: molecular mechanisms and biological effects. Cell Res. 2008;18:73–84.CrossRefPubMed
12.
go back to reference Friedberg EC. How nucleotide excision repair protects against cancer. Nat Rev Cancer. 2001;1:22–33.CrossRefPubMed Friedberg EC. How nucleotide excision repair protects against cancer. Nat Rev Cancer. 2001;1:22–33.CrossRefPubMed
13.
go back to reference Costa RM, Chigancas V, Galhardo Rda S, Carvalho H, Menck CF. The eukaryotic nucleotide excision repair pathway. Biochimie. 2003;85:1083–99.CrossRefPubMed Costa RM, Chigancas V, Galhardo Rda S, Carvalho H, Menck CF. The eukaryotic nucleotide excision repair pathway. Biochimie. 2003;85:1083–99.CrossRefPubMed
14.
go back to reference Stevnsner T, Muftuoglu M, Aamann MD, Bohr VA. The role of Cockayne syndrome group B (CSB) protein in base excision repair and aging. Mech Ageing Dev. 2008;129:441–8.CrossRefPubMedPubMedCentral Stevnsner T, Muftuoglu M, Aamann MD, Bohr VA. The role of Cockayne syndrome group B (CSB) protein in base excision repair and aging. Mech Ageing Dev. 2008;129:441–8.CrossRefPubMedPubMedCentral
15.
go back to reference Groisman R, Polanowska J, Kuraoka I, Sawada J, Saijo M, et al. The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. Cell. 2003;113:357–67.CrossRefPubMed Groisman R, Polanowska J, Kuraoka I, Sawada J, Saijo M, et al. The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. Cell. 2003;113:357–67.CrossRefPubMed
16.
go back to reference Fousteri M, Vermeulen W, van Zeeland AA, Mullenders LH. Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. Mol Cell. 2006;23:471–82.CrossRefPubMed Fousteri M, Vermeulen W, van Zeeland AA, Mullenders LH. Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. Mol Cell. 2006;23:471–82.CrossRefPubMed
17.
go back to reference Groisman R, Kuruoka I, Chevallier O, Gaye N, Magnaldo T, et al. CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors in the Cockayne syndrome. Genes Dev. 2006;20:1429–34.CrossRefPubMedPubMedCentral Groisman R, Kuruoka I, Chevallier O, Gaye N, Magnaldo T, et al. CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors in the Cockayne syndrome. Genes Dev. 2006;20:1429–34.CrossRefPubMedPubMedCentral
18.
go back to reference D’Errico M, Parlanti E, Teson M, Degan P, Lemma T, et al. The role of CSA in the response to oxidative DNA damage in human cells. Oncogene. 2007;26:4336–43.CrossRefPubMed D’Errico M, Parlanti E, Teson M, Degan P, Lemma T, et al. The role of CSA in the response to oxidative DNA damage in human cells. Oncogene. 2007;26:4336–43.CrossRefPubMed
19.
go back to reference Frosina G. The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome. Free Radic Biol Med. 2007;43:165–77.CrossRefPubMed Frosina G. The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome. Free Radic Biol Med. 2007;43:165–77.CrossRefPubMed
20.
go back to reference Nardo T, Oneda R, Spivak G, Mortier L, Thomas P, et al. A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proc Natl Acad Sci U S A. 2009;106:6209–14.CrossRefPubMedPubMedCentral Nardo T, Oneda R, Spivak G, Mortier L, Thomas P, et al. A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proc Natl Acad Sci U S A. 2009;106:6209–14.CrossRefPubMedPubMedCentral
21.
go back to reference Fleming ND, Agadjanian H, Nassanian H, Miller CW, Orsulic S, et al. Xeroderma pigmentosum complementation group C single-nucleotide polymorphisms in the nucleotide excision repair pathway correlate with prolonged progression-free survival in advanced ovarian cancer. Cancer. 2012;118:689–97.CrossRefPubMed Fleming ND, Agadjanian H, Nassanian H, Miller CW, Orsulic S, et al. Xeroderma pigmentosum complementation group C single-nucleotide polymorphisms in the nucleotide excision repair pathway correlate with prolonged progression-free survival in advanced ovarian cancer. Cancer. 2012;118:689–97.CrossRefPubMed
22.
go back to reference Guillem VM, Cervantes F, Martínez J, Alvarez-Larrán A, Collado M, et al. XPC genetic polymorphisms correlate with the response to imatinib treatment in patients with chronic phase chronic myeloid leukemia. Am J Hematol. 2010;85:482–6.CrossRefPubMed Guillem VM, Cervantes F, Martínez J, Alvarez-Larrán A, Collado M, et al. XPC genetic polymorphisms correlate with the response to imatinib treatment in patients with chronic phase chronic myeloid leukemia. Am J Hematol. 2010;85:482–6.CrossRefPubMed
23.
go back to reference Tu H, Sun L, Dong X, Gong Y, Xu Q, et al. Serum anti-Helicobacter pylori immunoglobulin G titer correlates with grade of histological gastritis, mucosal bacterial density, and levels of serum biomarkers. Scand J Gastroenterol. 2014;49(3):259–66.CrossRefPubMed Tu H, Sun L, Dong X, Gong Y, Xu Q, et al. Serum anti-Helicobacter pylori immunoglobulin G titer correlates with grade of histological gastritis, mucosal bacterial density, and levels of serum biomarkers. Scand J Gastroenterol. 2014;49(3):259–66.CrossRefPubMed
24.
go back to reference Dixon MF, Genta RM, Yardley JH, Correa P. Classification and grading of gastritis. The updated Sydney System. International Workshop on the Histopathology of Gastritis, Houston 1994. Am J Surg Pathol. 1996;20:1161–81.CrossRefPubMed Dixon MF, Genta RM, Yardley JH, Correa P. Classification and grading of gastritis. The updated Sydney System. International Workshop on the Histopathology of Gastritis, Houston 1994. Am J Surg Pathol. 1996;20:1161–81.CrossRefPubMed
25.
go back to reference Hamilton S, Aaltonen L. World Health Organization classification of tumours. Pathology and genetics of turnouts of the digestive system. Lyon: IARC Press; 2000. p. 237–40. Hamilton S, Aaltonen L. World Health Organization classification of tumours. Pathology and genetics of turnouts of the digestive system. Lyon: IARC Press; 2000. p. 237–40.
26.
go back to reference Lauren P. The two histological main types of gastric carcinoma: diffuse and so-called intestinal-type carcinoma. An attempt at a histoclinical classification. Acta Pathol Microbiol Scand. 1965;64:31–49.PubMed Lauren P. The two histological main types of gastric carcinoma: diffuse and so-called intestinal-type carcinoma. An attempt at a histoclinical classification. Acta Pathol Microbiol Scand. 1965;64:31–49.PubMed
27.
go back to reference Barrett JC. Haploview: visualization and analysis of SNP genotype data. Cold Spring Harb Protoc. 2009;4:pdb ip71. Barrett JC. Haploview: visualization and analysis of SNP genotype data. Cold Spring Harb Protoc. 2009;4:pdb ip71.
28.
go back to reference Gong YH, Sun LP, Jin SG, Yuan Y. Comparative study of serology and histology based detection of Helicobacter pylori infections: a large population-based study of 7,241 subjects from China. Eur J Clin Microbiol Infect Dis. 2010;29:907–11.CrossRefPubMed Gong YH, Sun LP, Jin SG, Yuan Y. Comparative study of serology and histology based detection of Helicobacter pylori infections: a large population-based study of 7,241 subjects from China. Eur J Clin Microbiol Infect Dis. 2010;29:907–11.CrossRefPubMed
29.
go back to reference Shi YY, He L. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res. 2005;15:97–8.CrossRefPubMed Shi YY, He L. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res. 2005;15:97–8.CrossRefPubMed
30.
31.
go back to reference Trzyna E, Duleba M, Faryna M, Majka M. Regulation of transcription in cancer. Front Biosci (Landmark Ed). 2012;17:316–30.CrossRef Trzyna E, Duleba M, Faryna M, Majka M. Regulation of transcription in cancer. Front Biosci (Landmark Ed). 2012;17:316–30.CrossRef
32.
go back to reference Crepieux P, Leprince D, Flourens A, Albagli O, Ferreira E, et al. The two functionally distinct amino termini of chicken c-ets-1 products arise from alternative promoter usage. Gene Expr. 1993;3:215–25.PubMed Crepieux P, Leprince D, Flourens A, Albagli O, Ferreira E, et al. The two functionally distinct amino termini of chicken c-ets-1 products arise from alternative promoter usage. Gene Expr. 1993;3:215–25.PubMed
33.
go back to reference Jemal A, Bray F, Center MM, Ferlay J, Ward E, et al. Global cancer statistics. CA Cancer J Clin. 2011;61:69–90.CrossRefPubMed Jemal A, Bray F, Center MM, Ferlay J, Ward E, et al. Global cancer statistics. CA Cancer J Clin. 2011;61:69–90.CrossRefPubMed
34.
go back to reference Brenner H, Rothenbacher D, Arndt V. Epidemiology of stomach cancer. Methods Mol Biol. 2009;472:467–77.CrossRefPubMed Brenner H, Rothenbacher D, Arndt V. Epidemiology of stomach cancer. Methods Mol Biol. 2009;472:467–77.CrossRefPubMed
35.
go back to reference Vauhkonen M, Vauhkonen H, Sipponen P. Pathology and molecular biology of gastric cancer. Best Pract Res Clin Gastroenterol. 2006;20(4):651–74.CrossRefPubMed Vauhkonen M, Vauhkonen H, Sipponen P. Pathology and molecular biology of gastric cancer. Best Pract Res Clin Gastroenterol. 2006;20(4):651–74.CrossRefPubMed
37.
go back to reference Compare D, Rocco A, Nardone G. Risk factors in gastric cancer. Eur Rev Med Pharmacol Sci. 2010;14:302–8.PubMed Compare D, Rocco A, Nardone G. Risk factors in gastric cancer. Eur Rev Med Pharmacol Sci. 2010;14:302–8.PubMed
38.
go back to reference Sankari SL, Masthan KM, Babu NA, Bhattacharjee T, Elumalai M. Apoptosis in cancer—an update. Asian Pac J Cancer Prev. 2012;13:4873–8.CrossRefPubMed Sankari SL, Masthan KM, Babu NA, Bhattacharjee T, Elumalai M. Apoptosis in cancer—an update. Asian Pac J Cancer Prev. 2012;13:4873–8.CrossRefPubMed
39.
go back to reference Brooks PJ. DNA damage, DNA repair, and alcohol toxicity—a review. Alcohol Clin Exp Res. 1997;21:1073–82.PubMed Brooks PJ. DNA damage, DNA repair, and alcohol toxicity—a review. Alcohol Clin Exp Res. 1997;21:1073–82.PubMed
40.
go back to reference Hecht SS. Tobacco carcinogens, their biomarkers and tobacco-induced cancer. Nat Rev Cancer. 2003;3:733–44.CrossRefPubMed Hecht SS. Tobacco carcinogens, their biomarkers and tobacco-induced cancer. Nat Rev Cancer. 2003;3:733–44.CrossRefPubMed
42.
go back to reference Toller IM, Neelsen KJ, Steger M, Hartung ML, Hottiger MO, et al. Carcinogenic bacterial pathogen Helicobacter pylori triggers DNA double-strand breaks and a DNA damage response in its host cells. Proc Natl Acad Sci U S A. 2011;108:14944–9.CrossRefPubMedPubMedCentral Toller IM, Neelsen KJ, Steger M, Hartung ML, Hottiger MO, et al. Carcinogenic bacterial pathogen Helicobacter pylori triggers DNA double-strand breaks and a DNA damage response in its host cells. Proc Natl Acad Sci U S A. 2011;108:14944–9.CrossRefPubMedPubMedCentral
Metadata
Title
Effect of ERCC8 tagSNPs and their association with H. pylori infection, smoking, and alcohol consumption on gastric cancer and atrophic gastritis risk
Authors
Jing-jing Jing
Li-ping Sun
Qian Xu
Yuan Yuan
Publication date
01-12-2015
Publisher
Springer Netherlands
Published in
Tumor Biology / Issue 12/2015
Print ISSN: 1010-4283
Electronic ISSN: 1423-0380
DOI
https://doi.org/10.1007/s13277-015-3703-9

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