The influence of genetic polymorphisms in XRCC3 and ADH5 genes on the frequency of genotoxicity biomarkers in workers exposed to formaldehyde

Environmental and Molecular Mutagenesis

Volumn 54, Issue 3, 2013, Pages 213-221

  Ladeira, Carina ^a,b   Viegas, Susana ^a,b   Carolino, Elisabete ^a   Gomes, Manuel C ^c   Brito, Miguel ^a  

^a INSTITUTO POLITÉCNICO DE LISBOA   (Portugal)

^b UNIVERSIDADE NOVA DE LISBOA   (Portugal)

^c UNIVERSITY OF LISBON   (Portugal)

Author keywords

Genetic susceptibility; Genotoxicity biomarkers; Occupational exposure

Indexed keywords

ALCOHOL DEHYDROGENASE; ALCOHOL DEHYDROGENASE 5; ASPARAGINE; BIOLOGICAL MARKER; FORMALDEHYDE; GLUTAMIC ACID; ISOLEUCINE; THREONINE; UNCLASSIFIED DRUG; VALINE; XRCC3 PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CELL METABOLISM; CHEEK; CONTROLLED STUDY; CYTOKINESIS; CYTOKINESIS BLOCK MICRONUCLEUS TEST; DOUBLE STRANDED DNA BREAK; DRUG ELIMINATION; DRUG METABOLISM; ENVIRONMENTAL MONITORING; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENETIC SUSCEPTIBILITY; GENOTOXICITY; GENOTYPE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MICRONUCLEUS TEST; OCCUPATIONAL EXPOSURE; PERIPHERAL LYMPHOCYTE; RECOMBINATION REPAIR; SINGLE NUCLEOTIDE POLYMORPHISM; WORKER;

ADULT; ALDEHYDE OXIDOREDUCTASES; BIOLOGICAL MARKERS; DNA REPAIR; DNA-BINDING PROTEINS; ENVIRONMENTAL MONITORING; FEMALE; FORMALDEHYDE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; LOGISTIC MODELS; LYMPHOCYTES; MALE; MICRONUCLEI, CHROMOSOME-DEFECTIVE; MICRONUCLEUS TESTS; MOUTH MUCOSA; MUTAGENS; OCCUPATIONAL EXPOSURE; POLYMORPHISM, GENETIC; WORKPLACE;

EID: 84875052945     PISSN: 08936692     EISSN: 10982280     Source Type: Journal    
DOI: 10.1002/em.21755     Document Type: Article

References (63)

1. Araujo F, Pierce A, Stark J, Jasin M. 2002.Variant XRCC3 implicated in cancer is functional in homology-directed repair of double-strand breaks. Oncogene 21:4176-4180.
2. Battershill JM, Bumett K, Bull S. 2008.Factors affecting the incidence of genotoxicity biomarkers in peripheral blood lymphocytes: Impact on design of biomonitoring studies. Mutagenesis 6:423-237.
3. Benhamou S, Tuimala J, Bouchardy C, Dayer P, Sarasin A, Hirvonen A. 2004.DNA repair gene XRCC2 and XRCC3 polymorphisms and susceptibility to cancers of the upper aerodigestive tract. Int J Cancer 112:901-904.
4. Bolognesi C, Lando C, Forni A, Landini E, Scarpato R, Migliori L, Bonassi S. 1999.Chromosomal damage and ageing: Effect of micronuclei frequency in peripheral blood lymphocytes. Age Ageing 28:393-397.
5. Bonassi S, Neri M, Lando C, Ceppi M, Lin Y, Chang W, Holland N, Kirsch-Volders M, Zeiger E, Fenech M. 2003.Effect of smoking habit on the frequency of micronuclei in human lymphocytes: Results from the Human MicroNucleus project. Mutat Res 543:155-166.
6. Brenneman M, Weiss A, Nickoloff J, Chen D. 2000.XRCC3 is required for efficient repair of chromosome breaks by homologous recombination. Mutat Res 459:89-97.
7. Catalán J, Surrallés J, Falck G, Autio K, Norppa H. 2000.Segregation of sex chromosomes in human lymphocytes. Mutagenesis 3:251-255.
8. Chung C, Magalhães W, Gonzalez-Bosquet J, Chanock S. 2010.Genome-wide association studies in cancer-Current and future directions. Carcinogenesis 31:111-120.
9. Dhillon V, Thomas P, Iarmarcovai G, Kirsch-Volders M, Bonassi S, Fenech M. 2011.Genetic polymorphisms of genes involved in DNA repair and metabolism influence micronucleus frequencies in human peripheral blood lymphocytes. Mutagenesis 26:33-42.
10. El-Zein R, Schabath M, Etzel C, Lopez M, Franklin J, Spitz M. 2006.Cytokinesis-blocked micronucleus assay as a novel biomarker for lung cancer risk. Cancer Res 66:6449-6456.
11. El-Zein R, Fenech M, Lopez M, Spitz M, Etzel C. 2008.Cytokinesis-blocked cytome assay biomarkes identify lung cancer cases amongst smokers. Cancer Epidemiol Biomarkers Prev 17:1111-1119.
12. Engeland K, Höög J-O, Holmquist B, Estonius M, Jörnvall H. 1993.Mutation of Arg-115 of human class III alcohol dehydrogenase: A binding site required for formaldehyde dehydrogenase activity and fatty acid activation. Proc Natl Acad Sci USA 90:2491-2494.
13. Fenech M, Holland N, Chang W, Zeiger E, Bonassi S. 1999.The Human MicroNucleus Project-An international collaborative study on the use of the micronucleus technique for measuring DNA damage in humans. Mutat Res 428:271-283.
14. Fenech M. 2002.Chromosomal biomarkers of genomic instability relevant to cancer. Drug Discov Today 22:1128-1137.
15. Fenech M, Crott J. 2002.Micronuclei, nucleoplasmic bridges and nuclear buds induced in folic acid deficient human lymphocytes-Evidence for breakage-fusion-bridge cycles in the cytokinesis-block micronucleus assay. Mutat Res 504:131-136.
16. Fenech M. 2005.The Genome Health Clinic and Genome Health Nutrigenomics concepts: Diagnosis and nutritional treatment of genome and epigenome damage on an individual basis. Mutagenesis 20:225-269.
17. Fenech M. 2006.Cytokinesis-block micronucleus assay evolves into a "cytome" assay of chromosomal instability, mitotic dysfunction and cell death. Mutat Res 600:58-66.
18. Fenech M, Kirsch-Volders M, Natarajan A.T, Surralles J, Crott JW, Parry J, Norppa H, Eastmond DA, Tucker JD, Thomas P. 2011.Molecular mechanisms of micronucleus, nucleoplasmic bridge and nuclear bud formation in mammalian and human cells. Mutagenesis 26:125-132.
19. Figueiredo J, Knight J, Briollais L, Andrulis I, Ozcelik H. 2004.Polymorphisms XRCC1-R399Q and XRCC3-T241M and the risk of breast cancer at the ontario site of the Brest Cancer Family Registry. Cancer Epidemiol Biomarkers Prevention 13:583-591.
20. Franks SJ. 2005.A mathematical model for the absorption and metabolism of formaldehyde vapour by humans. Toxicol Appl Pharmacol 206:309-320.
21. Han S, Zhang H, Wang Z, Xie Y, Tang R, Mao Y, Li Y. 2006.DNA repair gene XRCC3 polymorphisms and cancer risk: a meta-analysis of 48 case-control Studies. Eur J Hum Gene 14:1136-1144.
22. Hedberg, J. 2001.Function, Expression and Polymorphism of Human Alcohol Dehydrogenase 3/Glutathione-Dependent Formaldehyde Dehydrogenase.Stockholm: Karolinska Institute.
23. Hunter D. 2005.Gene-environment interactions in human diseases. Nat Rev Gene 6:287-298.
24. Hur MW, Edenberg H. 1992.Cloning and characterization of the ADH5 gene encoding human alcohol dehydrogenase 5, formaldehyde dehydrogenase. Gene 121:305-311.
25. IARC, 2006.IARC Monographs on the Evaluation of Carcinogenic Risks to Human, volume 88: Formaldehyde, 2-Butoxyethanol and 1-tert-Butoxy-2-propanol.Lyon: World Health Organization.
26. Iarmarcovai G, Sari-Minodier I, Orsière T, De Méo M, Gallice P, Bideau C, Iniesta D, Pompili J, Bergé-Lefranc JL, Botta A. 2006.A combined analysis of XRCC1, XRCC3, GSTM1 and GSTT1 polymorphisms and centromere content of micronuclei in welders. Mutagenesis 2:159-165.
27. Iarmarcovai G, Bonassi S, Botta A, Bann RA, Orsière T. 2008.Genetic polymorphisms and micronucleus formation: A review of the literature. Mutat Res 658:215-233.
28. Just W, Zeller J, Riegert C, Speit G. 2011.Genetic polymorphisms in the formaldehyde dehydrogenase gene and their biological significance. Toxicol Lett 207:121-127.
29. Kaiser R, Holmquist B, Vallee B, Jörnvall H. 1991.Human class III alcohol dehydrogenase/glutathione-dependent formaldehyde dehydrogenase. J Protein Chem 1:69-73.
30. Kirsch-Volders M, Mateuca R, Roelants M, Tremp A, Zeiger E, Bonassi S, Holland N, Chang W, Aka P, DeBoeck M, Goddenis L, Haufroid V, Ishikawa H, Laffon B, Marcos R, Migliore L, Norppa H, Teixeira J, Zijno A, Fenech M. 2006.The effects of GSTM1 and GSTT1 polymorphisms on micronucleus frequencies in human lymphocytes in vivo. Cancer Epidemiol Biomarkers Prev 15:1038-1042.
31. Ladeira C, Viegas S, Carolino E, Gomes MC, Brito M. 2011.Genotoxicity biomarkers in occupational exposure to formaldehyde-The case of histopathology laboratories. Mutat Res 721:15-20.
32. Lee S-L, Wang M-F, Lee A-I, Yin S-J. 2003.The metabolic role of human ADH3 functioning as ethanol dehydrogenase. FEBS Lett 544:143-147.
33. Lindberg H, Wang X, Järventaus H, Falck G, Norppa H, Fenech M. 2007.Origin of nuclear buds and micronuclei in normal and folate-deprived human lymphocytes. Mutat Res 617:33-45.
34. Lindh A, Rafii S, Schultz N, Cox A, Helleday T. 2006.Mitotic defects in XRCC3 variants T241M and D213N and their relation to cancer susceptibility. Hum Mol Gene 7:1217-1224.
35. Manuguerra M, Saletta F, Karagas M, Berwick M, Veglia F, Vineis P, Matillo G. 2006.XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer: A HuGE review. Am J Epidemiol 164:297-302.
36. Marsh G, Youk A. 2004.Reevaluation of mortality risks from leukemia in formaldehyde cohort study of the National Cancer Institute. Regulatory Toxicol Pharmacol 40:113-124.
37. Marsh G, Youk A, Morfeld P, Collins J, Symons J. 2010.Incomplete follow-up in the National Cancer Institutés formaldehyde worker study and the impact on subsequent reanalyses and causal evaluations. Regulatory Toxicol Pharmacol 58:233-236.
38. Mateuca R, Lombaert N, Aka NP, Decordier I, Kirsch-Volders M. 2006.Chromosomal changes: Induction, detection methods and applicability in human biomonitoring. Biochimie 88:1515-1531.
39. 241 polymorphisms influence micronucleus frequencies in human lymphocytes in vivo. Mutagenesis 23:35-41.
40. 32P-DNA adducts in a sample of healthy subjects. Carcinogenesis 9:1437-1445.
41. McGlothlin JD. 2005. Occupational exposure assessment and control using video exposure monitoring in the pharmaceutical industry.In INTERNATIONAL SCIENTIFIC CONFERENCE (IOHA 2005), 6, 19-23 September 2005, Pilanesberg National Park North West Province, South Africa. Pilanesberg: IOHA - International Occupational Hygiene. MVS - Mine Ventilation of South Africa.
42. National Toxicology Program. 2011.Report on Carcinogens, Twelfth Edition. Department of Health and Human Services. 195-205.
43. NIOSH. 1994.Manual of Analytical Methods, 4th ed. DHHS (NIOSH) Publication 94-113.
44. Norppa H. 2001.Genetic polymorphism and chromosome damage. Int J Hyg Environ Health 204:31-38.
45. Pérez-Cadahía B, Laffon B, Valdiglesias V, Pásaro E, Méndez J. 2008.Cytogenetic effects induced by Prestige oil on human populations: The role of polymorphisms in genes involved in metabolism and DNA repair. Mutat Res 653:117-123.
46. Ramirez A, Saldanha P. 2002.Micronucleus investigation of alcoholic patients with oral carcinoma. Gene Mol Res 1:246-260.
47. Rhomberg L, Bailey L, Goodman J, Hamade A, Mayfield D. 2011.Is exposure to formaldehyde in air causally associated with leukemia? A hypothesis-based weight-of-evidence analysis. Crit Rev Toxicol 41:555-621.
48. Serrano-García L, Montero-Montoya R. 2001.Micronuclei and chromatid buds are the result of related genotoxic events. Environmental Mol Mutagen 38:38-45.
49. Shen H, Sturgis E, Dahlstrom K, Zheng Y, Spitz M, Wei Q. 2002.A variant of the DNA repair gene XRCC3 and risk of squamous cell carcinoma of the head and neck: A case-control analysis. Int J Cancer 99:869-872.
50. Stich H, Rosin M. 1983.Quantitating the synergistic effect of smoking and alcohol consumption with the micronucleus test on human buccal mucosa cells. Int J Cancer 31:305-308.
51. Thomas P, Umegaki K, Fenech M. 2003.Nucleoplasmic bridges are a sensitive measure of chromosome rearrangement in the cytokinesis-block micronucleus assay. Mutagenesis 18:187-194.
52. Tolbert P, Shy C, Allen J. 1991.Micronuclei and other nuclear anomalies in buccal smears: A field test in snuff users. Am J Epidemiol 8:840-850.
53. Umegaki K, Fenech M. 2000.Cytokinesis-block micronucleus assay in WIL2-NS cells: A sensitive system to detect chromosomal damage induced by reactive oxygen species and activated human neutrophils. Mutagenesis 15:261-269.
54. Utani K, Kawamoto J-k, Shimizu N.2007.Micronuclei bearing acentric extrachromosomal chromatin are transcriptionally competent and may perturb the cancer cell phenotype. Mol Cancer Res 5:695-704.
55. Viegas S, Ladeira C, Nunes C, Malta-Vacas J, Gomes M, Mendonça P, Brito M, Prista J. 2010.Genotoxic effects in occupational exposure to formaldehyde: A study in anatomy and pathology laboratories and formaldehyde-resins production. J Occupational Med Toxicol 5:1-8.
56. Wang Y, Liang D, Spitz M, Zhang K, Dong Q, Amos C, Wu X. 2003.XRCC3 genetic polymorphism, smoking, and lung carcinoma risk in minority populations. Cancer 98:1701-1706.
57. Wang LL, Yang AK, Li Y, Liu JP, Zhou SF. 2010.Phenotype prediction of deleterious nonsynonymous single nucleotide polymorphisms in human alcohol metabolism-related genes: A bioinformatics study. Alcohol 44:425-438.
58. Winsey S, Haldar N, Marsh H, Bunce M, Marshall S, Harris A, Wojnarowska F, Welsh K. 2000.A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer. Cancer Res 60:5612-5616.
59. Wu H, Romieu I, Sienra-Monge JJ, Rio-Navarro B, Anderson D, Jenchura C, Li H, Ramirez-Aguilar M, Lara-Sanchez I, London S. 2007.Genetic variation in S-nitrosogluthatione reductase (GSNOR) and childhood asthma. J Allergy Clin Immunol 2:322-328.
60. Yoshihara T, Ishida M, Kinomura A, Katsura M, Tsuruga T, Tashiro S, Asahara T, Miyagawa K. 2004XRCC3 deficiency results in a defect in recombination and increased endoreduplication in human cells. Embo J 23:670-680.
61. Zhang L, Steinmaus C, Eastmond D, Xin X, Smith M. 2009.Formaldehyde exposure and leukemia: A new meta-analysis and potential mechanisms. Mutat Res 681:150-168.
62. Zhang L, Tang X, Rothman N, Vermeulen R, Ji Z, Shen M, Qiu C, Guo W, Liu S, Reiss B, Freeman L, Ge Y, Hubbard A, Hua M, Blair A, Galvan N, Ruan X, Alter B, Xin K, Li S, Moore L, Kim S, Xie Y, Hayes R, Azuma M, Hauptmann M, Xiong J, Stewart P, Li L, Rappaport S, Huang H, Fraumeni J, Smith Jr., Lan Q. 2010a.Occupational exposure to formaldehyde, hematoxicity, and leukemia-specific chromosome changes in cultured myeloid progenitor cells. Cancer Epidemiol Biomarkers Prev 19:80-88.
63. Zhang L, Freeman L, Nakamura J, Hecht S, Vandenberg J, Smith M, Sonawane B. 2010b.Formaldehyde and leukemia: Epidemiology, potential mechanisms and implications for risk assessment. Environ Mol Mutagen 51:181-191.