Skip to main content
Log in

Polymorphism of DNA repair genes (XRCC1, XRCC3, XPC, XPD, XPA) in ethnic groups from Republic of Bashkortostan

  • Human Genetics
  • Published:
Russian Journal of Genetics Aims and scope Submit manuscript

Abstract

Genotype and allele-frequency distributions of the excision and homologous recombination of DNA repair genes XRCC1 (rs25487 and rs25489), XRCC3 (rs861539), XPC (rs2228001), XPD (rs13181), XPA (rs1800975) were examined in three ethnic groups from the Republic of Bashkortostan (Russia), Russians, Tatars, and Bashkirs. The data obtained were compared to those for other ethnic groups from Russia and worldwide. Statistically significant differences in the allele-frequency distribution of the XPA gene polymorphic locus rs1800975 (p = 0.03) between the samples of Russians and Tatars were demonstrated. Russians and Bashkirs differed in the allele-frequency distribution of the rs861539 polymorphic locus of the XRCC3 gene (p < 0.0001), and Tatars and Bashkirs, at the rs861539 locus of the XRCC3 gene (p < 0.0001). In Russians and Tatars from the Republic of Bashkortostan, allele frequencies at the DNA repair gene polymorphic loci examined were consistent with those in the population of Northern and Western Europe, while polymorphic allele-frequency distributions in Bashkirs was similar to that observed in the ethnic group of Gujarati Indians.

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.

Similar content being viewed by others

References

  1. Khusnutdinova, E.K., Victorova, T.V., Fatkhlislamova, R.I., and Galeyeva, A.R., Relative contributions of the Caucasoid and Mongoloid components to the formation of ethnic groups of the Volga-Ural region as estimated from DNA polymorphism, Russ. J. Genet., 1999, vol. 35, no. 8, pp. 1132–1137.

    CAS  Google Scholar 

  2. Khusnutdinova, E.K., Victorova, T.V., Fatkhlislamova, R.I., and Khidiatova, I.M., Restriction fragment length polymorphism of the major noncoding region of mitochondrial DNA in human populations from the Volga-Ural region, Russ. J. Genet., 1999, vol. 35, no. 5, pp. 586–592.

    CAS  Google Scholar 

  3. Ginter, E.K., Zinchenko, R.A., El’chinova, G.I., et al., The role of population dynamics in the distribution of hereditary pathology among Russian populations, Med. Genet., 2004, vol. 3, no. 12, pp. 548–555.

    Google Scholar 

  4. Spitsyn, V.A., Ekologicheskaya genetika cheloveka (Human Ecological Genetics), Moscow: Nauka, 2008.

    Google Scholar 

  5. Kostin, A.V., Chumak, A.A, Belous, N.I., and Abramenko, I.V., The role of DNA repair gene polymorphisms in development of oncological pathology under the influence of radiation, Probl. Radiats. Med. Radiobiol., 2009, vol. 14, pp. 198–212.

    Google Scholar 

  6. Branzei, D. and Foiani, M., Regulation of DNA repair throughout the cell cycle, Nat. Rev. Mol. Cell. Biol., 2008, vol. 9, pp. 297–308.

    Article  PubMed  CAS  Google Scholar 

  7. Wang, L.E., Gorlova, O.Y., Ying, J., et al., Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung cancer, Cancer Res., 2012, vol. 73, no. 1, pp. 256–64.

    Article  PubMed  Google Scholar 

  8. Naccarati, A., Soucek, P., Stetina, R., et al., Genetic polymorphisms and possible gene-gene interactions in metabolic and DNA repair genes: Effects on DNA damage, Mutat. Res. 2006, vol. 593, nos. 1–2, pp. 22–31.

    PubMed  CAS  Google Scholar 

  9. Hamdy, M.S., El-Haddad, A.M., Bahaa El-Din, N.M., et al., RAD51 and XRCC3 gene polymorphisms and the risk of developing acute myeloid leukemia, J. Invest. Med., 2011, vol. 59, no. 7, pp. 1124–1130.

    CAS  Google Scholar 

  10. Manuguerra, M., Saletta, F., Karagas, M.R., et al., XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer, Hum. Genome Epidem. Rev., 2006, vol. 164, no. 4, pp. 297–302.

    Google Scholar 

  11. Khrunin, A.V., Firsov, S.Yu., and Limborska, S.A., Polymorphisms of DNA repair genes ERCC2 and XRCC1 in populations of Russia, Russ. J. Genet., 2011, vol. 47, no. 11, pp. 1391–1392.

    Article  CAS  Google Scholar 

  12. Sanyal, S., Festa, F., Sakano, S., et al., Polymorphisms in DNA repair and metabolic genes in bladder cancer, Carcinogenesis, 2004, vol. 5, pp. 729–734.

    Google Scholar 

  13. Cho, E.Y., Hildesheim, A., Chen, C.J., et al., Nasopharyngeal carcinoma and genetic polymorphisms of DNA repair enzymes XRCC1 and hOGG1, Cancer Epidemiol. Biomarkers, 2003, vol. 10, pp. 1100–1104.

    Google Scholar 

  14. López-Cima, M.F., González-Arriaga, P., García-Castro, L., et al., Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of northern Spain, BMC Cancer, 2007, vol. 7, p. 162.

    Article  PubMed  Google Scholar 

  15. Guo, W., Zhou, R.M., Wan, L.L., et al., Polymorphisms of the DNA repair gene xeroderma pigmentosum groups A and C and risk of esophageal squamous cell carcinoma in a population of high incidence region of North China, J. Cancer Res. Clin. Oncol., 2008, vol. 134, no. 2, pp. 263–270.

    Article  PubMed  CAS  Google Scholar 

  16. Barrett, J.C., Fry, B., Maller, J., and Daly, M.J., Haploview: Analysis and visualization of LD and haplotype maps, Bioinformatics, 2005, vol. 21, no. 2, pp. 263–265.

    Article  PubMed  CAS  Google Scholar 

  17. Glants, S., Mediko-biologicheskaya statistika (Medical and Biological Statistics), Moscow: Praktika, 1999.

    Google Scholar 

  18. Korytina, G., Kochetova, O., Akhmadishina, L., et al., Polymorphisms of cytochrome P450 genes in three ethnic groups from Russia, Balkan. Med. J., 2012, vol. 29, pp. 252–260.

    CAS  Google Scholar 

  19. Minina, V.I., Druzhinin, V.G., Timofeeva, A.A., and Larionov, A.V., Polymorphisms of the excision DNA repair gene among children of indigenous and migrant populations of the Kemerovo region, in Modern Problems in Science and Education, 2011, no. 5. www.science-education.ru/99-4846

    Google Scholar 

  20. Akulevich, N.M., Saenko, V.A., Rogounovitch, T.I., et al., Polymorphisms of DNA damage response genes in radiation-related and sporadic papillary thyroid carcinoma, Endocr.-Relat. Cancer, 2009, vol. 16, no. 2, pp. 491–503.

    Article  PubMed  CAS  Google Scholar 

  21. Viktorova, T.V., Bermisheva, M.A., Shagina, I.V., et al., Polymorphism of the DYS19 and DYS393 microsatellite loci and the frequency of T-C transition in the RBF5 locus of the Y chromosome in populations of the Volga-Ural region, Russ. J. Genet., 2000, vol. 36, no. 8, p. 958–964.

    CAS  Google Scholar 

  22. Bermisheva, M., Tambets, K., Villems, R., and Khusnutdinova, E., Diversity of mitochondrial DNA haplogroups in ethnic populations of the Volga-Ural region, Mol. Biol. (Moscow), 2002, vol. 36, no. 6, pp. 990–1001.

    Article  CAS  Google Scholar 

  23. Pavlov, V.N., Izmailov, A.A., Viktorova, T.V., et al., Genetic risk factors in the formation of bladder cancer, Eksp. Klin. Urol., 2010, no. 2, pp. 30–33.

    Google Scholar 

  24. Lukmanova, L.I., Davletshin, R.A., Yuldashev, V.L., et al., Association of polymorphic XRCC1, XPD, and XRCC3 genes with increased risk of alcoholic hepatitis, Med. Genet., 2011, vol. 10, no. 9, pp. 31–35.

    CAS  Google Scholar 

  25. Kochetova, O.V., Gainullina, M.K., and Viktorova, T.V., Polymorphic variants of XRCC1, XRCC3, XPD, and XPC DNA repair genes and the risk uterine myoma among women working in petrochemical complex, Ekol. Genet., 2011, no. 4, pp. 43–51.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to O. V. Kochetova.

Additional information

Original Russian Text © O.V. Kochetova, G.F. Korytina, L.Z. Akhmadishina, T.V. Viktorova, 2013, published in Genetika, 2013, Vol. 49, No. 8, pp. 1000–1007.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kochetova, O.V., Korytina, G.F., Akhmadishina, L.Z. et al. Polymorphism of DNA repair genes (XRCC1, XRCC3, XPC, XPD, XPA) in ethnic groups from Republic of Bashkortostan. Russ J Genet 49, 870–876 (2013). https://doi.org/10.1134/S102279541308005X

Download citation

  • Received:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1134/S102279541308005X

Keywords

Navigation