Skip to main content
Log in

Identification of XRCC1 Arg399Gln and XRCC3 Thr241Met Polymorphisms in a Turkish Population and Their Association with the Risk of Chronic Lymphocytic Leukemia

  • Original Article
  • Published:
Indian Journal of Hematology and Blood Transfusion Aims and scope Submit manuscript

Abstract

DNA repair systems are essential for cellular functions. Defects due to sequence variations in DNA repair genes can lead severe failure of cell functions and causing many cancer types including leukemia. The aim of this study was to investigate the relationship between XRCC1 Arg399Gln and XRCC3 Thr241Met polymorphisms and susceptibility to chronic lymphocytic leukemia (CLL) in Turkish patients. In addition, genotype distribution of these polymorphisms was compared with other populations. The frequencies of Arg399Gln and Thr241Met single nucleotide polymorphisms were studied in 25 CLL patients and 30 healthy individuals. Single nucleotide polymorphisms were genotyped by PCR–RFLP method. The genotype and allele frequencies of Arg399Gln and Thr241Met polymorphisms were not statistically different between the CLL patients and control group. The allelic frequency similarities were found between Turkish and Brazilian populations for Arg399Gln polymorphism. On the other hand, similarities were found between Turkish and other Caucasian populations for Thr241Met polymorphism. Marked differences were observed between American African versus Turkish and Chinese versus Turkish populations for Arg399Gln and Thr241Met polymorphisms respectively. These results indicate that Arg399Gln and Thr241Met polymorphisms were not associated with the development of CLL in Turkish population and ethnic differences is one of the most important factor for allele frequency differences.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Voso MT, Fabiani E, D’Alo’ F, Guidi F, Di Ruscio A, Sica S, Pagano L, Greco M, Hohaus S, Leone G (2007) Increased risk of acute myeloid leukemia due to polymorphisms in detoxification and DNA repair enzymes. Ann Oncol 18:1523–1528. doi:10.1093/annonc/mdm191

    Article  CAS  PubMed  Google Scholar 

  2. Meza-Espinoza JP, Peralta-Leal V, Gutierrez-Angulo M, Macias-Gomez N, Ayala-Madrigal ML, Barros-Nuñez P, Duran-Gonzalez J, Leal-Ugarte E (2009) XRCC1 polymorphisms and haplotypes in Mexican patients with acute lymphoblastic leukemia. Genet Mol Res 8:1451–1458. doi:10.4238/vol8-4gmr687

    Article  CAS  PubMed  Google Scholar 

  3. Seedhouse C, Baintan R, Lewis M, Hording A, Russell N, Das-Gupta E (2002) The genotype distribution of the XRCC1 gene indicates a role for base excision repair in the development of therapy-related acute myeloblastic leukemia. Blood 100:3761–3766. doi:10.1182/blood-2002-04-1152

    Article  CAS  PubMed  Google Scholar 

  4. Krajinovic M, Labuda D, Mathonnet G, Labuda M, Moghrabi A, Champagne J, Sinnett D (2002) Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes and response to treatment of childhood acute lymphoblastic leukemia. Clin Cancer Res 8:802–810

    CAS  PubMed  Google Scholar 

  5. Thacker J, Zdzienicka MZ (2003) The mammalian XRCC genes: their roles in DNA repair and genetic stability. DNA Repair (Amst) 2:655–672. doi:10.1016/j.dnarep.2004.04.012

    Article  CAS  Google Scholar 

  6. Rice PA (1999) Holding damaged DNA together. Nat Struct Biol 6:805–806. doi:10.1038/12257

    Article  CAS  PubMed  Google Scholar 

  7. Annamaneni S, Gorre M, Kagita S, Addepalli K, Digumarti RR, Satti V, Battini MR (2012) Association of XRCC1 gene polymorphisms with chronic myeloid leukemia in the population of Andhra Pradesh, India. Hematology 18:163–168. doi:10.1179/1607845412Y.0000000040

    Article  PubMed  Google Scholar 

  8. Duman N, Aktan M, Ozturk S, Palanduz S, Cakiris A, Ustek D, Ozbek U, Nalcaci M, Cefle K (2012) Investigation of Arg399Gln and Arg194Trp polymorphisms of the XRCC1 (x-ray cross-complementing group 1) gene and its correlation to sister chromatid exchange frequency in patients with chronic lymphocytic leukemia. Genet Test Mol Biomark 16:287–291. doi:10.1089/gtmb.2011.0152

    Article  CAS  Google Scholar 

  9. Engin AB, Karahalil B, Karakaya AE, Engin A (2011) Association between XRCC1 ARG399GLN and P53 ARG72PRO polymorphisms and the risk of gastric and colorectal cancer in Turkish population. Arh Hig Rada Toksikol 62:207–214. doi:10.2478/10004-1254-62-2011-2098

    Article  CAS  PubMed  Google Scholar 

  10. El-Din MS, Raslan H, Abdel-Hamid S, Makhlouf M (2012) Detection of XRCC1 gene polymorphisms in Egyptian patients with acute myeloid leukemia. Comp Clin Pathol 21:505–513. doi:10.1007/s00580-010-1120-4

    Article  CAS  Google Scholar 

  11. Karakucak M, Yakut T, Evrensel T, Deligonul A, Gulten T, Ocakoglu G, Kurt E, Kanat O, Cubukcu E, Sehitoglu İ et al (2012) XRCC1 gene polymorphisms and risk of lung cancer in Turkish Patients. Int J Hum Genet 12:113–117

    Google Scholar 

  12. Miao J, Zhang X, Tang QL, Wang XY, Kai L (2012) Prediction value of XRCC 1 gene polymorphism on the survival of ovarian cancer treated by adjuvant chemotherapy. Asian Pac J Cancer Prev 13:5007–5010

    Article  PubMed  Google Scholar 

  13. Liu YT, Shi JP, Fu LY, Zhou B, Wang HL, Wu XM (2013) Gene polymorphism of XRCC1 Arg399Gln and cervical carcinoma susceptibility in Asians: a meta-analysis based on 1,759 cases and 2,497 controls. Asian Pac J Cancer Prev 14:189–193

    Article  PubMed  Google Scholar 

  14. Celkan T, Guven M, Batar B, Alhaj S (2008) The difference between pre-B cell acute lymphoblastic leukemia and Burkitt lymphoma in relation to DNA damage repair gene polymorphisms in childhood. Leuk Lymphoma 49:1638–1640. doi:10.1080/10428190802140063

    Article  CAS  PubMed  Google Scholar 

  15. Mohrenweiser HW, Wilson DM 3rd, Jones IM (2003) Challenges and complexities in estimating both the functional impact and the disease risk associated with the extensive genetic variation in human DNA repair genes. Mutat Res 526:93–125

    Article  CAS  PubMed  Google Scholar 

  16. Shen MR, Jones IM, Mohrenweiser H (1998) Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res 58:604–608

    CAS  PubMed  Google Scholar 

  17. Park JY, Lee SY, Jeon HS, Bae NC, Chae SC, Joo S, Kim CH, Park JH, Kam S, Kim IS et al (2002) Polymorphism of the DNA repair gene XRCC1 and risk of primary lung cancer. Cancer Epidemiol Biomark Prev 11:23–27

    CAS  Google Scholar 

  18. Matullo G, Palli D, Peluso M, Guarrera S, Carturan S, Celentano E, Krogh V, Munnia A, Tumino R, Polidoro S et al (2001) XRCC1, XRCC3, XPD gene polymorphisms, smoking and (32) p-DNA adducts in a sample of healthy subjects. Carcinogenesis 22:1437–1445. doi:10.1093/carcin/22.9.1437

    Article  CAS  PubMed  Google Scholar 

  19. Oscier D, Dearden C, Eren E, Fegan C, Follows G, Hillmen P, Illidge T, Matutes E, Milligan DW, Pettitt A et al (2004) Guidelines on the diagnosis, investigation and management of chronic lymphocytic leukemia. Br J Haematol 159:541–564. doi:10.1111/bjh.12067

    Google Scholar 

  20. David-Beabes GL, Lunn RM, London SJ (2001) No association between the XPD (Lys751G1n) polymorphism of the XRCC3 (Thr241Met) polymorphism and lung cancer risk. Cancer Epidemiol Biomark Prev 10:911–912

    CAS  Google Scholar 

  21. Duel EJ, Holly EA, Bracci PM, Wiencke JK, Kelsey KT (2002) A population-based study of the Arg399Gln polymorphism in X-ray repair cross-complementing group 1 (XRCC1) and risk of pancreatic adenocarcinoma. Cancer Res 62:4630–4636

    Google Scholar 

  22. Lee SG, Kim B, Choi J, Kim C, Lee I, Song K (2002) Genetic polymorphisms of XRCC1 and risk of gastric cancer. Cancer Lett 187:53–60. doi:10.1016/S0304-3835(02)00381-6

    Article  CAS  PubMed  Google Scholar 

  23. Bachmann HS, Rübben H, Schmid KW, Siffert W, Riemann K (2009) DNA repair gene XRCC1 polymorphisms and outcome of renal cell carcinoma in caucasian patients. Anticancer Res 29:5131–5135

    CAS  PubMed  Google Scholar 

  24. Baris S, Celkan T, Batar B, Guven M, Ozdil M, Ozkan A, Apak H, Yildiz I (2009) Association between genetic polymorphism in DNA repair genes and risk of B-cell lymphoma. Pediatr Hematol Oncol 26:467–472. doi:10.3109/08880010903096201

    Article  CAS  PubMed  Google Scholar 

  25. Cifci S, Yılmaz M, Pehlivan M, Sever T, Okan V, Pehlivan S (2011) DNA repair genes polymorphisms in multiple myeloma: no association with XRCC1 (Arg399Gln) polymorphism, but the XRCC4 (VNTR in intron 3 and G-1394T) and XPD (Lys751Gln) polymorphisms is associated with the disease in Turkish patients. Hematology 16:361–367. doi:10.1179/102453311X13127324303399

    Article  CAS  PubMed  Google Scholar 

  26. Bănescu C, Tilinca M, Benedek EL, Demian S, Macarie I, Duicu C, Dobreanu M (2013) XRCC3 THr241Met polymorphism and risk of acute myeloid leukemia in a Romanian population. Gene 526:478–483. doi:10.1016/j.gene.2013.05.054

    Article  PubMed  Google Scholar 

  27. Dos Reis MB, Losi-Guembarovski R, de Souza Fonseca Ribeiro EM, Cavalli IJ, Morita MC, Ramos GH, de Oliveira BV, Mizuno LT, Rogatto SR, de Syllos Cólus IM (2013) Allelic variants of XRCC1 and XRCC3 repair genes and susceptibility of oral cancer in Brazilian patients. J Oral Pathol Med 42:80–85. doi:10.1111/j.1600-0714.2012.01192.x

    Google Scholar 

  28. Mucha B, Przybylowska-Sygut K, Dziki AJ, Dziki L, Sygut A, Majsterek I (2013) Association of Thr241Met polymorphism of XRCC3 gene with risk of colorectal cancer in the Polish population. Pol J Pathol 64:185–190. doi:10.5114/pjp.2013.38137

    Article  CAS  PubMed  Google Scholar 

  29. Sorour A, Ayad MW, Kassem H (2013) The genotype distribution of the XRCC1, XRCC3 and XPD DNA repair genes and their role for the development of acute myeloblastic leukemia. Genet Test Mol Biomark 17:195–201. doi:10.1089/gtmb.2012.0278

    Article  CAS  Google Scholar 

  30. Wang R, Hu X, Zhou Y, Feng Q, Su L, Long J, Wei B (2013) XRCC1 Arg399Gln and Arg194Trp polymorphisms in childhood acute lymphoblastic leukemia risk: a meta-analysis. Leuk Lymphoma 54:153–159. doi:10.3109/10428194.2012.704031

    Article  PubMed  Google Scholar 

  31. Zhao B, Ye J, Li B, Ma Q, Su G, Han R (2013) DNA repair gene XRCC3 Thr241Met polymorphism and glioma risk: a meta-analysis. Int J Clin Exp Med 6:438–443 ISSN:1940-5901/IJCEM1305003

    CAS  PubMed Central  PubMed  Google Scholar 

  32. Naccarati A, Pardini B, Hemminki K, Vodicka P (2007) Sporadic colorectal cancer and individual susceptibility: a review of the association studies investigating the role of DNA repair genetic polymorphisms. Mutat Res 635:118–145

    Article  CAS  PubMed  Google Scholar 

  33. Arruda VR, Grignolli CE, Gonçalves MS, Soares MC, Menezes R, Saad ST, Costa FF (1998) Prevalence of homozygosity for the deleted alleles of glutathione S-transferase mu (GSTM1) and theta (GSTT1) among distinct ethnic groups from Brazil: relevance to environmental carcinogenesis? Clin Genet 54:210–214. doi:10.1111/j.1399-0004.1998.tb04286.x

    CAS  PubMed  Google Scholar 

  34. Chiyomaru K, Nagano T, Nishigori C (2012) XRCC1 Arg194Trp polymorphism, risk of nonmelanoma skin cancer and extramammary Paget's disease in a Japanese population. Arch Dermatol Res 305:363–370. doi:10.1007/s00403-012-1245-1

  35. Wang LE, Bondy ML, Shen H, El-Zein R, Aldape K, Cao Y, Pudavalli V, Levin VA, Yung WK, Wei Q (2004) Polymorphisms of DNA repair genes and risk of glioma. Cancer Res 64:5560–5563. doi:10.1158/0008-5472.CAN-03-2181

  36. Luo KQ, Mu SQ, Wu ZX, Shi YN, Peng JC (2013) Polymorphisms in DNA repair genes and risk of glioma and meningioma. Asian Pac J Cancer Prev 14:449–452

Download references

Conflict of interest

The authors declare that they have no conflict of interest.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Pelin Mutlu.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Mutlu, P., Elçi, M.P., Yıldırım, M. et al. Identification of XRCC1 Arg399Gln and XRCC3 Thr241Met Polymorphisms in a Turkish Population and Their Association with the Risk of Chronic Lymphocytic Leukemia. Indian J Hematol Blood Transfus 31, 332–338 (2015). https://doi.org/10.1007/s12288-014-0482-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12288-014-0482-1

Keywords

Navigation