Genomics & Informatics

Korea Genome Organization (한국유전체학회)
권호 표지
DOI QR코드

DOI QR Code

Lack of Association of BIRC5 Polymorphisms with Clearance of HBV Infection and HCC Occurrence in a Korean Population

  • Lee, Jin-Sol (Department of Life Science, Sogang University) ;
  • Kim, Jeong-Hyun (Department of Life Science, Sogang University) ;
  • Park, Byung-Lae (Department of Genetic Epidemiology, SNP Genetics, Inc.) ;
  • Cheong, Hyun-Sub (Department of Genetic Epidemiology, SNP Genetics, Inc.) ;
  • Kim, Jason-Y. (Department of Life Science, Sogang University) ;
  • Park, Tae-Joon (Department of Life Science, Sogang University) ;
  • Chun, Ji-Yong (Department of Life Science, Sogang University) ;
  • Bae, Joon-Seol (Department of Life Science, Sogang University) ;
  • Lee, Hyo-Suk (Department of Internal Medicine and Liver Research Institute, Seoul National University) ;
  • Kim, Yoon-Jun (Department of Internal Medicine and Liver Research Institute, Seoul National University) ;
  • Shin, Hyoung-Doo (Department of Life Science, Sogang University)
  • Published : 2009.12.31
Download PDF
⟨ Previous Next ⟩

Abstract

BIRC5 (Survivin) belongs to the inhibitor of apoptosis gene family. The BIRC5 protein inhibits caspases and consequently blocks apoptosis. Thus, BIRC5 contributes to the progression of cancer allowing for continued cell proliferation and survival. In this study, we identified eight sequence variants of BIRC5 through direct DNA sequencing. Among the eight single nucleotide polymorphisms (SNPs), six common variants with frequencies higher than 0.05 were selected for larger-scale genotyping (n=1,066). Results of the study did not show any association between the promoter region polymorphisms and the clearance of hepatitis B virus (HBV) infection and hepatocellular carcinoma (HCC) occurrence. This is in line with a previous study in which polymorphisms in the promoter region does not influence the function of BIRC5. Initially, we were able to detect a signal with the ＋9194A>G, which disappeared after multiple corrections but led to a change in amino acid. Similarly, we were also able to detect an association signal between two haplotypes (haplotype-2 and haplotype-5) on the onset age of HCC and/or HCC occurrence, but the signals also disappeared after multiple corrections. As a result, we concluded that there was no association between BIRC5 polymorphisms and the clearance HBV infection and/or HCC occurrence. However, our results might useful to future studies.

Keywords

References

  1. Altieri, D.C. (1994a). Molecular cloning of effector cell protease receptor-1, a novel cell surface receptor for the protease factor Xa. J. Biol. Chem . 269, 3139-3142
  2. Altieri, D.C. (1994b). Splicing of effector cell protease receptor- 1 mRNA is modulated by an unusual retained intron. Biochemistry 33, 13848-13855 https://doi.org/10.1021/bi00250a039
  3. Altieri, D.C. (2003). Validating survivin as a cancer therapeutic target. Nat. Rev. Cancer 3, 46-54 https://doi.org/10.1038/nrc968
  4. Ambrosini, G., Adida, C., Sirugo, G., and Altieri, D.C. (1998). Induction of apoptosis and inhibition of cell proliferation by survivin gene targeting. J. Biol. Chem . 273, 11177-11182 https://doi.org/10.1074/jbc.273.18.11177
  5. An, P., Nelson, G.W., Wang, L., Donfield, S., Goedert, J.J., Phair, J., Vlahov, D., Buchbinder, S., Farrar, W.L., Modi, W., O'Brien, S.J., and Winkler C.A. (2002). Modulating influence on HIV/AIDS by interacting RANTES gene variants. Proc. Natl. Acad. Sci. USA 99, 10002-10007 https://doi.org/10.1073/pnas.142313799
  6. Boidot, R., Vegran, F., Jacob, D., Chevrier, S., Gangneux, N., Taboureau, J., Oudin, C., Rainville, V., Mercier, L., and Lizard-Nacol, S. (2008). The expression of BIRC5 is correlated with loss of specific chromosomal regions in breast carcinomas. Genes Chromosomes Cancer 47, 299-308 https://doi.org/10.1002/gcc.20533
  7. Castedo, M., Perfettini, J.L., Roumier, T., Andreau, K., Medema, R.H., and Kroemer, G. (2004). Cell death by mitotic catastrophe: a molecular definition. Oncogene 23, 2825-2837 https://doi.org/10.1038/sj.onc.1207528
  8. Hedrick, P.W. (1987). Gametic disequilibrium measures: proceed with caution. Genetics 117, 331-341
  9. Jang, J.S., Kim, K.M., Kang, K.H., Choi, J.E., Lee, W.K., Kim, C.H., Kang, Y.M., Kam, S., Kim, I.S., Jun, J.E., Jung, T.H., and Park, J.Y. (2008). Polymorphisms in the survivin gene and the risk of lung cancer. Lung Cancer 60, 31-39 https://doi.org/10.1016/j.lungcan.2007.09.008
  10. Kida, A., Kakihana, K., Kotani, S., Kurosu, T., and Miura, O. (2007). Glycogen synthase kinase-3beta and p38 phosphorylate cyclin D2 on Thr280 to trigger its ubiquitin/proteasome-dependent degradation in hematopoietic cells. Oncogene 26, 6630-6640 https://doi.org/10.1038/sj.onc.1210490
  11. Kim, Y.J., Yoon, J.H., Kim, C.Y., Kim, L.H., Park, B.L., Shin, H.D., and Lee, H.S. (2006). IGF2 polymorphisms are associated with hepatitis B virus clearance and hepatocellular carcinoma. Biochem. Biophys. Res. Commun . 346, 38-44 https://doi.org/10.1016/j.bbrc.2006.05.080
  12. Lee, M.S., Kim, D.H., Kim, H., Lee, H.S., Kim, C.Y., Park, T.S., Yoo, K.Y., Park, B.J., and Ahn Y.O. (1998). Hepatitis B vaccination and reduced risk of primary liver cancer among male adults: a cohort study in Korea. Int. J. Epidemiol . 27, 316-319 https://doi.org/10.1093/ije/27.2.316
  13. Lin, C.L., and Kao, J.H. (2008). Hepatitis B viral factors and clinical outcomes of chronic hepatitis B. J. Biomed. Sci . 15, 137-145 https://doi.org/10.1007/s11373-007-9225-8
  14. Lok, A.S., and McMahon, B.J. (2007). Chronic hepatitis B. Hepatology 45, 507-539 https://doi.org/10.1002/hep.21513
  15. Marusawa, H., Matsuzawa, S., Welsh, K., Zou, H., Armstrong, R., Tamm, I., and Reed, J.C. (2003). HBXIP functions as a cofactor of survivin in apoptosis suppression. Embo. J . 22, 2729-2740 https://doi.org/10.1093/emboj/cdg263
  16. Menashe, I., Rosenberg, P.S., and Bingshu, E.C. (2008). PGA: power calculator for case-control genetic association analyses. BMC Genet. 9, 36 https://doi.org/10.1186/1471-2156-9-36
  17. Merican, I., Guan, R., Amarapuka, D., Alexander, M.J., Chutaputti, A., Chien, R.N., Hasnian, S.S., Leung, N., Lesmana, L., Phiet, P.H., Sjalfoellah Noer, H.M., Sollano, J., Sun, H.S., and Xu, D.Z. (2000). Chronic hepatitis B virus infection in Asian countries. J. Gastroenterol. Hepatol . 15, 1356-1361 https://doi.org/10.1046/j.1440-1746.2000.0150121356.x
  18. Montorsi, M., Maggioni, M., Falleni, M., Pellegrini, C., Donadon, M., Torzilli, G., Santambrogio, R., Spinelli, A., Coggi, G., and Bosari, S. (2007). Survivin gene expression in chronic liver disease and hepatocellular carcinoma. Hepatogastroenterology 54, 2040-2044
  19. Park, B.L., Kim, Y.J., Cheong, H.S., Kim L.H., Choi, Y.H., Lee, H.S., and Shin, H.D. (2006). Association of common promoter polymorphisms of MCP1 with hepatitis B virus clearance. Exp. Mol. Med . 38, 694-702 https://doi.org/10.1038/emm.2006.82
  20. Sah, N.K., Khan, Z., Khan, G., and Bisen, P. (2006). Structural, functional and therapeutic biology of survivin. Cancer Lett. 244, 164-171 https://doi.org/10.1016/j.canlet.2006.03.007
  21. Shin, H.D., Park, B.L., Kim, L.H., Jung, J.H., Kim, J.Y., Yoon, J.H., Kim, Y,J., and Lee, H.S. (2003). Interleukin 10 haplotype associated with increased risk of hepatocellular carcinoma. Hum. Mol. Genet. 12, 901-906 https://doi.org/10.1093/hmg/ddg104
  22. Stephens, M., Smith, N.J., and Donnelly, P. (2001). A new statistical method for haplotype reconstruction from population data. Am. J. Hum. Genet . 68, 978-989 https://doi.org/10.1086/319501
  23. Wang, Y.H., Chiou, H.Y., Lin C.T., Hsieh, H.Y., Wu, C.C., Hsu, C.D., and Shen, C.H. (2009). Association between survivin gene promoter -31 C/G polymorphism and urothelial carcinoma risk in Taiwanese population. Urology 73, 670-674 https://doi.org/10.1016/j.urology.2008.09.048
  24. Yang, L., Zhu, H., Zhou, B., Gu, H., Yan, H., Tang, N., Dong, H., Sun, Q., Cong, R., Chen, G., and Wang, B. (2009). The association between the survivin C-31G polymorphism and gastric cancer risk in a Chinese population. Dig. Dis. Sci. 54, 1021-1028 https://doi.org/10.1007/s10620-008-0441-5

Cited by

  1. Polymorphisms of BIRC5 Gene is Associated with Chronic HBV Infection in Iranian Population pp.0974-0422, 2019, https://doi.org/10.1007/s12291-018-0805-3