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DNA Repair Gene Polymorphisms at XRCC1, XRCC3, XPD, and OGG1 Loci in the Hyderabad Population of India

  • Parine, Narasimha Reddy (Genome Research Chair, Department of Biochemistry, College of Science, King Saud University) ;
  • Pathan, Akbar Ali Khan (Genome Research Chair, Department of Biochemistry, College of Science, King Saud University) ;
  • Bobbarala, Varaprasad (Krisani Biosciences Limited.) ;
  • Abduljaleel, Zainularifeen (Genome Research Chair, Department of Biochemistry, College of Science, King Saud University) ;
  • Khan, Wajahatullah (Genome Research Chair, Department of Biochemistry, College of Science, King Saud University) ;
  • Alanazi, Mohammed (Genome Research Chair, Department of Biochemistry, College of Science, King Saud University)
  • 발행 : 2012.12.31

초록

Background: DNA repair is one of the crucial defense mechanism against mutagenic exposure. Inherited SNPs of DNA repair genes may contribute to variation in DNA repair capacity and susceptibility to cancer. Due to the presence of these variants, inter-individual and ethnic differences in DNA repair capacity have been established in various populations. India harbors enormous genetic and cultural diversity. Materials and Methods: In the present study we aimed to determine the genotypes and allele frequencies of XRCC1 Arg399Gln (rs25487), XRCC3 Thr241Met (rs861539), XPD Lys751Gln (rs13181), and OGG1 Ser326Cys (rs1052133) gene polymorphisms in 186 healthy individuals residing in the Hyderabad region of India and to compare them with HapMap and other populations. Results and Conclusions: The genotype and allele frequency distribution at the four DNA repair gene loci among Hyderabad population of India revealed a characteristic pattern. Comparison of these gene polymorphisms with other populations revealed a distinctiveness of Hyderabad population from the Deccan region of India. To the best of our knowledge, this is the first report of such DNA repair gene polymorphisms in the Deccan Indian population.

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참고문헌

  1. Benhamou S, Sarasin A (2002). ERCC2/XPD gene polymorphisms and cancer risk. Mutagenesis, 17, 463-69. https://doi.org/10.1093/mutage/17.6.463
  2. Brenneman MA, Weiss AE, Nickoloff JA, Chen DJ (2000). XRCC3 is required for efficient repair of chromosome breaks by homologous recombination. Mutat Res, 459, 89-97. https://doi.org/10.1016/S0921-8777(00)00002-1
  3. Caldecott KW (2003). XRCC1 and DNA strand break repair. DNA Repair (Amst), 2, 955-69. https://doi.org/10.1016/S1568-7864(03)00118-6
  4. Charames GS, Bapat B (2003). Genomic instability and cancer. Curr Mol Med, 3, 589-96. https://doi.org/10.2174/1566524033479456
  5. Chen JZ, Kadlubar FF (2003). A new clue to glaucoma pathogenesis. Am J Med, 114, 697-8. https://doi.org/10.1016/S0002-9343(03)00199-2
  6. Cui X, Brenneman M, Meyne J, et al (1999). The XRCC2 and XRCC3 repair genes are required for chromosome stability in mammalian cells. Mutat Res, 434, 75-88. https://doi.org/10.1016/S0921-8777(99)00010-5
  7. Custodio AC, Almeida LO, Pinto GR, et al (2012). Variation in DNA repair gene XRCC3 affects susceptibility to astrocytomas and glioblastomas. Genetics Mol Res, 11, 332-9. https://doi.org/10.4238/2012.February.10.4
  8. Elahi A, Zheng Z, Park J, et al (2002). The human OGG1 DNA repair enzyme and its association with orolaryngeal cancer risk. Carcinogenesis, 23, 1229-34. https://doi.org/10.1093/carcin/23.7.1229
  9. Friedberg EC, Walker GC, Siede W (1995). DNA Repair and Mutagenesis. ASM Press, Washington (DC).
  10. Gangwar R, Manchanda PK, Mittal RD (2009). Implications of XRCC1, XPD and APE1 gene polymorphism in north Indian population: A comparative approach in different ethnic groups worldwide. Genetica, 136, 163-9. https://doi.org/10.1007/s10709-008-9329-8
  11. Griffin CS, Simpson PJ, Wilson CR, Thacker J (2000). Mammalian recombination-repair genes XRCC2 and XRCC3 promote correct chromosome segregation. Nat Cell Biol, 2, 757-61. https://doi.org/10.1038/35036399
  12. Harithy RN, Ghazzawi WM (2011). Polymorphisms of the deoxyribonucleic acid (DNA) repair gene XRCC1 and risk of colon cancer in Saudi patients. Int J Med Med Sci, 3, 282-8.
  13. Iannuzzi MC, Maliarik M, Rybicki B (2002). Genetic polymorphisms in lung disease: bandwagon or breakthrough? Respir Res, 3, 15-22. https://doi.org/10.1186/rr164
  14. Improta G, Sgambato A, Bianchino G, et al (2008). Polymorphisms of the DNA repair genes XRCC1 and XRCC3 and risk of lung and colorectal cancer: a case-control study in a Southern Italian population. Anticancer Res, 28, 2941-6.
  15. Kertat K, Rosdahl I, Sun XF, et al (2008). The Gln/Gln genotype of XPD codon 751 as a genetic marker for melanoma risk and Lys/Gln as an important predictor for melanoma progression: A case control study in the Swedish population. Oncol Rep, 20, 179-83.
  16. Kohno T, Kunitoh H, Toyama K, et al (2006). Association of the OGG1-Ser326Cys polymorphism with lung adenocarcinoma risk. Cancer Sci, 97, 724-8. https://doi.org/10.1111/j.1349-7006.2006.00240.x
  17. 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 Reports, 38, 2849-54. https://doi.org/10.1007/s11033-010-0430-6
  18. Kuschel B, Auranen A, McBride S, et al (2002). Variants in DNA double-strand break repair genes and breast cancer susceptibility. Hum Mol Genet, 11, 1399-407. https://doi.org/10.1093/hmg/11.12.1399
  19. Livak KJ (1999). Allelic discrimination using fluorogenic probes and the 5' nuclease assay. Genet Anal: Biomol Engineer, 14, 143-9. https://doi.org/10.1016/S1050-3862(98)00019-9
  20. Lunn RM, Langlois RG, Hsieh LL, et al (1999). XRCC1 polymorphisms: Effects on aflatoxin B1-DNA adducts and glycophorin A variant frequency. Cancer Res, 59, 2557-61.
  21. Majumder M, Sikdar N, Paul RR, Roy B (2005). Increased risk of oral leukoplakia and cancer among mixed tobacco users carrying XRCC1 variant haplotypes and cancer among smokers carrying two risk genotypes: one on each of two loci, GSTM3 and XRCC1 (codon 280). Cancer Epidemiol Biomarkers Prev, 14, 2106-12. https://doi.org/10.1158/1055-9965.EPI-05-0108
  22. Majumder M, Sikdar N, Ghosh S, Roy B (2007). Polymorphisms at XPD and XRCC1 DNA repair loci and increased risk of oral leukoplakia and cancer among NAT2 slow acetylators. Int J Cancer, 120, 2148-56. https://doi.org/10.1002/ijc.22547
  23. Matullo G, Guarrera S, Carturan S, et al (2001a). 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
  24. Matullo G, Palli D, Peluso M, et al (2001b). XRCC1, XRCC3, XPD gene polymorphisms, smoking and (32)P-DNA adducts in a sample of healthy subjects. Carcinogenesis, 22, 1437-45. https://doi.org/10.1093/carcin/22.9.1437
  25. Moullan N, Cox DG, Angele S, et al (2003). Polymorphisms in the DNA repair gene XRCC1, breast cancer risk, and response to radiotherapy. Cancer Epidemiol Biomarkers Prev, 12, 1168-74.
  26. Pramanik S, Devi S, Chowdhary S, et al (2011). DNA repair gene polymorphisms at XRCC1, XRCC3, XPD, and OGG1 loci in Maharashtrian population of central India. Chemosphere, 82, 941-6. https://doi.org/10.1016/j.chemosphere.2010.10.100
  27. Ratnasinghe D, Yao SX, Tangrea JA, et al (2001). Polymorphisms of the DNA repair gene XRCC1 and lung cancer risk. Cancer Epidemiol Biomarkers Prev, 10, 119-23.
  28. Sambrook J, Fritsch EF, Maniatis T (1989). Molecular Cloning: a laboratory manual. 2nd ed. Cold Spring Harbor Laboratory, Cold Spring Harbor Laboratory Press 1659.
  29. Samson M, Singh SS, Rama R, et al (2011). XPD Lys751Gln increases the risk of breast cancer. Oncol Lett, 2, 155-9.
  30. Shinmura K, Yokota J (2001). The OGG1 gene encodes a repair enzyme for oxidatively damaged DNA and is involved in human carcinogenesis. Antioxid Redox Signal, 3, 597-609. https://doi.org/10.1089/15230860152542952
  31. Skjelbred CF, Saebo M, Wallin H, et al (2006). Polymorphisms of the XRCC1, XRCC3 and XPD genes and risk of colorectal adenoma and carcinoma, in a Norwegian cohort: A case control study. BMC Cancer, 6, 67. https://doi.org/10.1186/1471-2407-6-67
  32. Srivastava A, Srivastava K, Pandey SN, et al (2009). Single nucleotide polymorphisms of DNA repair genes OGG1 and XRCC1: association with gallbladder cancer in North Indian population. Annals of Surgical Oncology, 16, 1695-703. https://doi.org/10.1245/s10434-009-0354-3
  33. Sturgis EM, Castillo EJ, Li L, et al (1999). Polymorphisms of DNA repair gene XRCC1 in squamous cell carcinoma of the head and neck. Carcinogenesis, 20, 2125-9. https://doi.org/10.1093/carcin/20.11.2125
  34. Vettriselvi V, Vijayalakshmi K, Solomon PF, Venkatachalam P (2007). XRCC1 and XPD gene polymorphisms in a south Indian population. Asia Pac J Cancer Prev, 8, 283-6.
  35. Wang J, Zhao Y, Jiang J, et al (2010). Polymorphisms in DNA repair genes XRCC1, XRCC3 and XPD, and colorectal cancer risk: a case-control study in an Indian population. J Cancer Res Clin Oncol, 136, 1517-25. https://doi.org/10.1007/s00432-010-0809-8
  36. Yuan L, Cui D, Zhao EJ, et al (2011). XPD Lys751Gln polymorphism and esophageal cancer risk: a metaanalysis involving 2288 cases and 4096 controls. World J Gastroentero, 17, 2343-8. https://doi.org/10.3748/wjg.v17.i18.2343
  37. Zhan P, Wang Q, Wei SZ, et al (2010). ERCC2/XPD Lys751Gln and Asp312Asn gene polymorphism and lung cancer risk: a meta-analysis involving 22 case-control studies. J Thorac Oncol, 5, 1337-45. https://doi.org/10.1097/JTO.0b013e3181e7fe2a

피인용 문헌

  1. Correlation between Selected XRCC2, XRCC3 and RAD51 Gene Polymorphisms and Primary Breast Cancer in Women in Pakistan vol.15, pp.23, 2015, https://doi.org/10.7314/APJCP.2014.15.23.10225