Genomics & Informatics

Korea Genome Organization (한국유전체학회)
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Association Analysis of SERPINB5 Polymorphisms with HBV Clearance and HCC Occurrence in a Korean Population

  • Kim, Ja-Son Y. (Department of Life Science, Sogang University) ;
  • Park, Tae-Joon (Department of Life Science, Sogang University) ;
  • Lee, Jin-Sol (Department of Life Science, Sogang University) ;
  • Chun, Ji-Yong (Department of Life Science, Sogang University) ;
  • Bae, Joon-Seol (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.) ;
  • 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 : 2010.03.31
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Abstract

Serpin peptidase inhibitor, Clade B (ovalbumin), Member 5 (SERPINB5), also known as maspin, is a potent tumor suppressor gene. It has correlations with many tumor cells, from pancreas cancer to breast cancer, so it is possible that it may also affect liver cancer. There has also been a report that SERPINB12, a gene placed right next to SERPINB5, is expressed in liver. For this study, 32 polymorphisms were identified in SERPINB5 by direct DNA sequencing, and 11 of them were selected to be tested with a larger scale subjects. The association of the 11 SERPINB5 polymorphisms with Hepatitis B virus (HBV) clearance, hepatocellular carcinoma (HCC) occurrence and the onset age of HCC were analyzed. There were no significant associations found between 11 SERPINB5 polymorphisms and HBV clearance. In the case of HCC occurrence, one of the haplotypes (ht) showed association with HCC occurrence (OR=2.26, p=0.005, $P^{Cor}=0.05$), albeit with a low statistical power (40.8%) and haplotype frequency (0.052). Further study with a bigger sample size will be needed to clearly verify the association between ht5 and HCC occurrence.

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References

  1. 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
  2. Askew, Y.S., Pak, S.C., Luke, C.J., Askew, D.J., Cataltepe, S., Mills, D.R., Kato, H., Lehoczky, J., Dewar, K., Birren, B., and Silverman, G.A. (2001). SERPINB12 is a novel member of the human ov-serpin family that is widely expressed and inhibits trypsin-like serine proteinases. J. Biol. Chem. 276, 49320-19330. https://doi.org/10.1074/jbc.M108879200
  3. Bal, N., Kocer, N.E., Ertorer, M.E., Canpolat, E.T., and Kayaselcuk, F. (2008). Maspin, E-selectin, and P-selectin expressions in papillary thyroid carcinomas and their correlation with prognostic parameters. Pathol. Res. Pract. 204, 743-750. https://doi.org/10.1016/j.prp.2008.04.016
  4. Blandamura, S., Giacomelli, L., Leo, G., Segato, P., and Ninfo, V. (2006). Nuclear maspin detection in renal cell tumours: possible diagnostic role and correlation with p53 status. Histopathology 49, 274-282. https://doi.org/10.1111/j.1365-2559.2006.02504.x
  5. Cai, Z., Zhou, Y., Lei, T., Chiu, J.F., and He, Q.Y. (2009). Mammary serine protease inhibitor inhibits epithelial growth factor-induced epithelial-mesenchymal transition of esophageal carcinoma cells. Cancer 115, 36-48. https://doi.org/10.1002/cncr.23991
  6. Chun, J.Y., Park, B.L., Cheong, H.S., Kim, J.Y., Park, T.J., Lee, J.S., Lee, H.S., Kim Y.j., and Shin, H.D. (2009). Identification of polymorphisms in CYP2E1 gene and association analysis among chronic hbv patients. Genomics Inform. 7, 187-194. https://doi.org/10.5808/GI.2009.7.4.187
  7. Hall, D.C., Johnson-Pais, T.L., Grubbs, B., Bernal, R., Leach, R.J., and Padalecki, S.S. (2008). Maspin reduces prostate cancer metastasis to bone. Urol. Oncol. 26, 652-658. https://doi.org/10.1016/j.urolonc.2007.07.017
  8. Hedrick, P.W. (1987). Gametic disequilibrium measures: proceed with caution. Genetics 117, 331-341.
  9. Hong, S.N., Lee, J.K., Choe, W.H., Ha, H.Y., Park, K., Sung, I.K., Lee, K.T., Kim, J.J., and Rhee, J.C. (2009). The effect of aberrant maspin expression on the invasive ability of pancreatic ductal adenocarcinoma cells. Oncol. Rep. 21, 425-430.
  10. Kane, M.A. (1998). World-wide epidemiology of hepatitis B. Soz Praventivmed 43 Suppl 1:S24-26, S98-100. https://doi.org/10.1007/BF02042169
  11. Kashima, K., Ohike, N., Mukai, S., Sato, M., Takahashi, M., and Morohoshi, T. (2008). Expression of the tumor suppressor gene maspin and its significance in intraductal papillary mucinous neoplasms of the pancreas. Hepatobiliary Pancreat Dis. Int. 7, 86-90.
  12. Khalkhali-Ellis, Z. (2006). Maspin: the new frontier. Clin. Cancer Res. 12, 7279-7283. https://doi.org/10.1158/1078-0432.CCR-06-1589
  13. 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
  14. Koshy, R. (1998). Hepatitis B Virus. Imperial College Press, London.
  15. Kumar, V.F.N. (2003). Robbins & Cotran Pathologic Basis of Disease. Saunders.
  16. 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
  17. 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
  18. Maass, N., Hojo, T., Ueding, M., Luttges, J., Kloppel, G., Jonat, W., and Nagasaki, K. (2001). Expression of the tumor suppressor gene Maspin in human pancreatic cancers. Clin. Cancer Res. 7, 812-817.
  19. Menashe, I., Rosenberg, P.S., and Chen, B.E. (2008). PGA: power calculator for case-control genetic association analyses. BMC Genet. 9, 36.
  20. Oh, A.R., Lee, S.K., Kim, M.H., Cheong, J.Y., Cho, S.W., Yang, K.S., and Kwack, K.B. (2008). Polymorphisms in RAS guanyl-releasing protein 3 are associated with chronic liver disease and hepatocellular carcinoma in a Korean population. Genomics Inform. 6, 181-191. https://doi.org/10.5808/GI.2008.6.4.181
  21. 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
  22. Park, B.L., Kim, Y.J., Cheong, H.S., Lee, S.O., Han, C.S., Yoon, J.H., Park, J.H., Chang, H.S., Park, C.S., Lee, H.S., and Shin, H.D. (2007). HDAC10 promoter polymorphism associated with development of HCC among chronic HBV patients. Biochem. Biophys. Res. Commun. 363, 776-781. https://doi.org/10.1016/j.bbrc.2007.09.026
  23. Sager, R., Sheng, S., Pemberton, P., and Hendrix, M.J. (1997). Maspin. A tumor suppressing serpin. Adv. Exp. Med. Biol. 425, 77-88. https://doi.org/10.1007/978-1-4615-5391-5_8
  24. Shao, L.J., Shi, H.Y., Ayala, G., Rowley, D., and Zhang, M. (2008). Haploinsufficiency of the maspin tumor suppressor gene leads to hyperplastic lesions in prostate. Cancer Res. 68, 5143-5151. https://doi.org/10.1158/0008-5472.CAN-08-0163
  25. Shin, H.D., Park, B.L., Cheong, H.S., Yoon, J.H., Kim, Y.J., and Lee, H.S. (2007). SPP1 polymorphisms associated with HBV clearance and HCC occurrence. Int. J. Epidemiol. 36, 1001-1008. https://doi.org/10.1093/ije/dym093
  26. 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
  27. 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
  28. Vildozola Gonzales, H., and Salinas, J.L. (2009). Natural history of chronic hepatitis B virus infection. Rev. Gastroenterol Peru 29, 147-157.