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Increased Risk of Differentiated Thyroid Carcinoma with Combined Effects of Homologous Recombination Repair Gene Polymorphisms in an Iranian Population

  • Fayaz, Shima (Department of Biochemistry, Pasteur Institute of Iran) ;
  • Karimmirza, Maryam (Department of Biochemistry and Genetics, Payam-e-Noor University of Tehran) ;
  • Tanhaei, Shokoofeh (Department of Biochemistry and Genetics, Payam-e-Noor University of Tehran) ;
  • Fathi, Mozhde (Department of Biochemistry and Genetics, Payam-e-Noor University of Tehran) ;
  • Torbati, Peyman Mohammadi (Department of Pathology, Labbafi-Nezhad Hospital, Shahid Beheshti Medical University) ;
  • Fard-Esfahani, Pezhman (Department of Biochemistry, Pasteur Institute of Iran)
  • Published : 2013.11.30

Abstract

Homologous recombination (HR) repair has a crucial role to play in the prevention of chromosomal instability, and it is clear that defects in some HR repair genes are associated with many cancers. To evaluate the potential effect of some HR repair gene polymorphisms with differentiated thyroid carcinoma (DTC), we assessed Rad51 (135G>C), Rad52 (2259C>T), XRCC2 (R188H) and XRCC3 (T241M) polymorphisms in Iranian DTC patients and cancer-free controls. In addition, haplotype analysis and gene combination assessment were carried out. Genotyping of Rad51 (135G>C), Rad52 (2259C>T) and XRCC3 (T241M) polymorphisms was determined by PCR-RFLP and PCR-HRM analysis was carried out to evaluate XRCC2 (R188H). Separately, Rad51, Rad52 and XRCC2 polymorphisms were not shown to be more significant in patients when compared to controls in crude, sex-adjusted and age-adjusted form. However, results indicated a significant difference in XRCC3 genotypes for patients when compared to controls (p value: 0.035). The GCTG haplotype demonstrated a significant difference (p value: 0.047). When compared to the wild type, the combined variant form of Rad52/XRCC2/XRCC3 revealed an elevated risk of DTC (p value: 0.007). It is recommended that Rad52 2259C>T, XRCC2 R188H and XRCC3 T241M polymorphisms should be simultaneously considered as contributing to a polygenic risk of differentiated thyroid carcinoma.

Keywords

References

  1. Bastos HN, Antao MR, Silva SN, et al (2009). Association of polymorphisms in genes of the homologous recombination DNA repair pathway and thyroid cancer risk. Thyroid, 19, 1067-75. https://doi.org/10.1089/thy.2009.0099
  2. Caron NR, Clark OH (2004). Well differentiated thyroid cancer. Scand J Surg, 93, 261-71. https://doi.org/10.1177/145749690409300403
  3. Fayaz S, Fard-Esfahani P, Fard-Esfahani A, et al (2012). Assessment of genetic mutations in the XRCC2 coding region by high resolution melting curve analysis and the risk of differentiated thyroid carcinoma in Iran. Genet Mol Biol, 35, 32-7. https://doi.org/10.1590/S1415-47572012005000011
  4. Garcia-Quispes WA, Perez-Machado G, Akdi A, et al (2011). Association studies of OGG1, XRCC1, XRCC2 and XRCC3 polymorphisms with differentiated thyroid cancer. Mutat Res, 709-10, 67-72. https://doi.org/10.1016/j.mrfmmm.2011.03.003
  5. Honda M, Okuno Y, Yoo J, Ha T, Spies M (2011). Tyrosine phosphorylation enhances Rad52-mediated annealing by modulating its DNA binding. EMBO J, 30, 3368-82. https://doi.org/10.1038/emboj.2011.238
  6. Jackson SP (2002). Sensing and repairing DNA double-strand breaks. Carcinogenesis, 23, 687-96. https://doi.org/10.1093/carcin/23.5.687
  7. Khanna KK, Jackson SP (2001). DNA double-strand breaks: signaling, repair and the cancer connection. Nat Genet, 27, 247-54. https://doi.org/10.1038/85798
  8. Khayamzadeh M, Tadayon N, Salmanian R, et al (2011). Survival of thyroid cancer and social determinants in Iran, 2001-2005. Asian Pac J Cancer Prev, 12, 95-8.
  9. Krupa R, Sliwinski T, Wisniewska-Jarosinska M, et al (2011). Polymorphisms in Rad51, XRCC2 and XRCC3 genes of the homologous recombination repair in colorectal cancer--a case control study. Mol Biol Rep, 38, 2849-54. https://doi.org/10.1007/s11033-010-0430-6
  10. Lengauer C, Kinzler KW ,Vogelstein B (1998). Genetic instabilities in human cancers. Nature, 396, 643-9. https://doi.org/10.1038/25292
  11. Long XD, Ma Y, Qu de Y, et al (2008). The polymorphism of XRCC3 codon 241 and AFB1-related hepatocellular carcinoma in Guangxi population, China. Ann Epidemiol, 18, 572-8. https://doi.org/10.1016/j.annepidem.2008.03.003
  12. Matullo G, Guarrera S, Carturan S, et al (2001). DNA repair gene polymorphisms, bulky DNA adducts in white blood cells and bladder cancer in a case-control study. Int J Cancer, 92, 562-7. https://doi.org/10.1002/ijc.1228
  13. Miller SA, Dykes DD, Polesky HF (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res, 16, 1215. https://doi.org/10.1093/nar/16.3.1215
  14. Paques F, Haber JE (1999). Multiple pathways of recombination induced by double-strand breaks in Saccharomyces cerevisiae. Microbiol Mol Biol Rev, 63, 349-404.
  15. Romanowicz-Makowska H, Brys M, et al (2012). Single nucleotide polymorphism (SNP) Thr241Met in the XRCC3 gene and breast cancer risk in Polish women. Pol J Pathol, 63, 121-5.
  16. Schlumberger MJ ,Torlantano M (2000). Papillary and follicular thyroid carcinoma. Baillieres Best Pract Res Clin Endocrinol Metab, 14, 601-13. https://doi.org/10.1053/beem.2000.0105
  17. Siraj AK, Al-Rasheed M, Ibrahim M, et al (2008). Rad52 polymorphisms contribute to the development of papillary thyroid cancer susceptibility in Middle Eastern population. J Endocrinol Invest, 31, 893-9. https://doi.org/10.1007/BF03346438
  18. Sturgis EM, Zhao C, Zheng R ,Wei Q (2005). Radiation response genotype and risk of differentiated thyroid cancer: a case-control analysis. Laryngoscope, 115, 938-45. https://doi.org/10.1097/01.MLG.0000163765.88158.86
  19. Suwaki N, Klare K ,Tarsounas M (2011). Rad51 paralogs: roles in DNA damage signalling, recombinational repair and tumorigenesis. Semin Cell Dev Biol, 22, 898-905. https://doi.org/10.1016/j.semcdb.2011.07.019
  20. Tambini CE, Spink KG, Ross CJ, Hill MA ,Thacker J (2010). The importance of XRCC2 in Rad51-related DNA damage repair. DNA Repair (Amst), 9, 517-25. https://doi.org/10.1016/j.dnarep.2010.01.016
  21. Thompson LH, Schild D (2002). Recombinational DNA repair and human disease. Mutat Res, 509, 49-78. https://doi.org/10.1016/S0027-5107(02)00224-5
  22. Winsey SL, Haldar NA, Marsh HP, et al (2000). A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer. Cancer Res, 60, 5612-6.

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