Relevance of LIG4 gene polymorphisms with cancer susceptibility: Evidence from a meta-analysis

Scientific Reports

Volumn 4, Issue , 2014, Pages

  Xie, Shang ^a   Shan, Xiao Feng ^a   Shang, Kun ^b   Xu, Hui ^a   He, Jing ^c   Cai, Zhi Gang ^a  

^a PEKING UNIVERSITY SCHOOL AND HOSPITAL OF STOMATOLOGY   (China)

^b CAPITAL MEDICAL UNIVERSITY   (China)

^c SUN YAT SEN UNIVERSITY CANCER CENTER   (China)

Author keywords

[No Author keywords available]

Indexed keywords

DNA LIGASE (ATP); POLYDEOXYRIBONUCLEOTIDE SYNTHASE;

CARCINOGENESIS; DISEASE PREDISPOSITION; GENETIC ASSOCIATION; GENETICS; HUMAN; META ANALYSIS; NEOPLASM; PATHOLOGY; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

CARCINOGENESIS; DISEASE SUSCEPTIBILITY; DNA LIGASES; GENETIC ASSOCIATION STUDIES; HUMANS; NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84923308042     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep06630     Document Type: Article

References (59)

1. Carter, D. New global survey shows an increasing cancer burden. Am J Nurs 114, 17 (2014).
2. Popat, K., McQueen, K. & Feeley, T. W. The global burden of cancer. Best Pract Res Clin Anaesthesiol 27, 399-408 (2013).
3. Siegel, R., Ma, J., Zou, Z. & Jemal, A. Cancer statistics, 2014. CA Cancer J Clin 64, 9-29 (2014).
4. Wilson, S., Jones, L., Coussens, C. & Hanna, K. (Eds.). Cancer and the environment: Gene-environment interaction, (National Academy Press, Washington, DC, 2002).
5. Wei, Y. F. et al. Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination. Mol Cell Biol 15, 3206-16 (1995).
6. van Gent, D. C. & van der Burg, M. Non-homologous end-joining, a sticky affair. Oncogene 26, 7731-40 (2007).
7. Grawunder, U. et al. Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells. Nature 388, 492-5 (1997).
8. Sharpless, N. E. et al. Impaired nonhomologous end-joining provokes soft tissue sarcomas harboring chromosomal translocations, amplifications, and deletions. Mol Cell 8, 1187-96 (2001).
9. Chistiakov, D. A., Voronova, N. V. & Chistiakov, P. A. Genetic variations in DNA repair genes, radiosensitivity to cancer and susceptibility to acute tissue reactions in radiotherapy-treated cancer patients. Acta Oncologica 47, 809-24 (2008).
10. Chrzanowska, K. H., Gregorek, H., Dembowska-Baginska, B., Kalina, M. A. & Digweed, M. Nijmegen breakage syndrome (NBS). Orphanet J Rare Dis 7, 13 (2012).
11. Pearce, C. L. et al. Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium. Br J Cancer 100, 412-20 (2009).
12. Pharoah, P. & Breast Canc Assoc, C. Commonly studied single-nucleotide polymorphisms and breast cancer: Results from the Breast Cancer Association Consortium. J Natl Cancer I 98, 1382-96 (2006).
13. Tuteja, N. & Tuteja, R. Unraveling DNA repair in human: molecular mechanisms and consequences of repair defect. Crit Rev Biochem Mol Biol 36, 261-90 (2001).
14. Zhou, L. P. et al. Lack of association between LIG4 gene polymorphisms and the risk of breast cancer: a HuGE review and meta-analysis. Asian Pac J Cancer Prev 13, 3417-22 (2012).
15. Liu, Y. H. et al. Polymorphisms of LIG4, BTBD2, HMGA2, and RTEL1 Genes Involved in the Double-Strand Break Repair Pathway Predict Glioblastoma Survival. J Clin Oncol 28, 2467-74 (2010).
16. Werbrouck, J. et al. Acute normal tissue reactions in head-and-neck cancer patients treated with IMRT: influence of dose and association with genetic polymorphisms in DNA DSB repair genes. Int J Radiat Oncol Biol Phys 73, 1187-95 (2009).
17. Grawunder, U., Zimmer, D., Fugmann, S., Schwarz, K. & Lieber, M. R.DNAligase IV is essential for V(D)J recombination and DNA double-strand break repair in human precursor lymphocytes. Mol Cell 2, 477-84 (1998).
18. Henriquez-Hernandez, L. A. et al. Polymorphisms in DNA-repair genes in a cohort of prostate cancer patients from different areas in Spain: heterogeneity between populations as a confounding factor in association studies. PLoS One 8, e69735 (2013).
19. Lee, K. M. et al. Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk. Clin Cancer Res 11, 4620-6 (2005).
20. Liu, Y. H. et al. Polymorphisms of LIG4 and XRCC4 involved in the NHEJ pathway interact to modify risk of glioma. Hum Mutat 29, 381-9 (2008).
21. O'Driscoll, M. et al. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol Cell 8, 1175-85 (2001).
22. Pierce, A. J. & Jasin, M. NHEJ deficiency and disease. Mol Cell 8, 1160-1 (2001).
23. Reeves, S. G. et al. DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome. Cancer Epidemiol 36, 183-9 (2012).
24. Shin, A. et al. Genotype-phenotype Relationship between DNA Repair Gene Genetic Polymorphisms andDNARepair Capacity. Asian Pac J Cancer P 9, 501-5 (2008).
25. Ding, Z. M. et al. The LIG4 Ile658Val polymorphism does not affect the risk of cervical carcinoma. Pathol Res Pract 206, 556-9 (2010).
26. Romanowicz-Makowska, H. et al. Genetic analysis of the polymorphisms in nonhomologous DNA end joining gene Ku70 and Ligase IV in postmenopausal breast cancer women. Prz Menopauzalny 9, 296-9 (2010).
27. Sakiyama, T. et al.Association of amino acid substitution polymorphisms inDNA repair genes TP53, POLI, REV1 and LIG4 with lung cancer risk. Int J Cancer 114, 730-7 (2005).
28. Schildkraut, J. M. et al. Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer. PLoS One 5, e10061 (2010).
29. Sobczuk, A. et al. Analysis of the polymorphisms in non-homologous DNA end joining (NHEJ) gene Ku70 and Ligase IV in sporadic breast cancer in women. Pol J Pathol 61, 27-31 (2010).
30. Yu, H. P. et al. An analysis of single nucleotide polymorphisms of 125 DNA repair genes in the Texas genome-wide association study of lung cancer with a replication for the XRCC4 SNPs. DNA Repair 10, 398-407 (2011).
31. Al-Hadyan, K. S., Al-Harbi, N. M., Al-Qahtani, S. S. & Alsbeih, G. A. Involvement of single-nucleotide polymorphisms in predisposition to head and neck cancer in Saudi Arabia. Genet Test Mol Biomarkers 16, 95-101 (2012).
32. Andreae, J., Varon, R., Sperling, K. & Seeger, K. Polymorphisms in theDNA ligase IV gene might influence the risk of acute lymphoblastic leukemia in children. Leukemia 21, 2226-7 (2007).
33. Assis, J., Gomes, M., Marques, D., Pereira, D. & Medeiros, R. Influence of LIG4 1977 T/C polymorphism in ovarian cancer (OC) susceptibility. Ann Oncol 21, 59-59 (2010).
34. Fu, Y. P. et al. Breast cancer risk associated with genotypic polymorphism of the nonhomologous end-joining genes: a multigenic study on cancer susceptibility. Cancer Res 63, 2440-6 (2003).
35. Garcia-Closas, M. et al. Polymorphisms inDNA double-strand break repair genes and risk of breast cancer: two population-based studies in USA and Poland, and meta-analyses. Hum Genet 119, 376-88 (2006).
36. Gomes, B. C. et al. The role of common variants of non-homologous end-joining repair genes XRCC4, LIG4 and Ku80 in thyroid cancer risk. Oncol Rep 24, 1079-85 (2010).
37. Han, J. L., Hankinson, S. E., Ranu, H., De Vivo, I. & Hunter, D. J. Polymorphisms in DNA double-strand break repair genes and breast cancer risk in the Nurses' Health Study. Carcinogenesis 25, 189-95 (2004).
38. Hill, D. A. et al. Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes. Blood 108, 3161-7 (2006).
39. Jakubowska, A. et al. BRCA1-associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms. Breast Cancer Res Treat 119, 201-11 (2010).
40. Kuschel, B. et al. Variants in DNA double-strand break repair genes and breast cancer susceptibility. Hum Mol Genet 11, 1399-407 (2002).
41. Li, D. H. et al. DNA Repair Gene Polymorphisms and Risk of Pancreatic Cancer. Clin Cancer Res 15, 740-6 (2009).
42. Roddam, P. L. et al. Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination. J Med Genet 39, 900-5 (2002).
43. Salagovic, J., Klimcakova, L., Ilencikova, D. & Kafkova, A. Association of follicular lymphoma risk with BRCA2 N372H polymorphism in Slovak population. Med Oncol 29, 1173-8 (2012).
44. Tseng, R. C. et al. Lung Cancer Susceptibility and Prognosis Associated With Polymorphisms in the Nonhomologous End-joining Pathway Genes. Cancer 115, 2939-48 (2009).
45. Werbrouck, J. et al. Single-nucleotide polymorphisms in DNA double-strand break repair genes: association with head and neck cancer and interaction with tobacco use and alcohol consumption. Mutat Res 656, 74-81 (2008).
46. Wu, X. et al. Bladder cancer predisposition: amultigenic approach to DNA-repair and cell-cycle-control genes. Am J Hum Genet 78, 464-79 (2006).
47. Zhao, P. et al. Genetic polymorphisms of DNA double-strand break repair pathway genes and glioma susceptibility. BMC Cancer 13, 234 (2013).
48. Khanna, K. K. & Jackson, S. P. DNA double-strand breaks: signaling, repair and the cancer connection. Nat Genet 27, 247-54 (2001).
49. van Gent, D. C., Hoeijmakers, J. H. & Kanaar, R. Chromosomal stability and the DNA double-stranded break connection. Nat Rev Genet 2, 196-206 (2001).
50. Shen, M. R., Jones, I. M. & Mohrenweiser, H. Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res 58, 604-8 (1998).
51. Wang, E. Understanding genomic alterations in cancer genomes using an integrative network approach. Cancer Lett 340, 261-9 (2013).
52. Li, J. et al. Identification of high-quality cancer prognostic markers andmetastasis network modules. Nat Commun 1, 34 (2010).
53. Cochran, W. The combination of estimates from different experiments. Biometrics 10, 101-29 (1954).
54. Mantel, N. & Haenszel, W. Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst 22, 719-48 (1959).
55. DerSimonian, R. & Laird, N. Meta-analysis in clinical trials. Control Clin Trials 7, 177-88 (1986).
56. Higgins, J. P. & Thompson, S. G. Quantifying heterogeneity in a meta-analysis. Stat Med 21, 1539-58 (2002).
57. Egger, M., Davey Smith, G., Schneider, M. & Minder, C. Bias in meta-analysis detected by a simple, graphical test. BMJ 315, 629-34 (1997).
58. Wetterslev, J., Thorlund, K., Brok, J. & Gluud, C. Trial sequential analysis may establish when firm evidence is reached in cumulative meta-analysis. J Clin Epidemiol 61, 64-75 (2008).
59. Brok, J., Thorlund, K., Wetterslev, J. & Gluud, C. Apparently conclusive metaanalyses may be inconclusive - Trial sequential analysis adjustment of random error risk due to repetitive testing of accumulating data in apparently conclusive neonatal meta-analyses. Int J Epidemiol 38, 287-98 (2009).