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Genomics Inform > Volume 7(4); 2009 > Article
Lack of Association of BIRC5 Polymorphisms with Clearance of HBV Infection and HCC Occurrence in a Korean Population.
Jin Sol Lee, Jeong Hyun Kim, Byung Lae Park, Hyun Sub Cheong, Jason Y Kim, Tae Joon Park, Ji Yong Chun, Joon Seol Bae, Hyo Suk Lee, Yoon Jun Kim, Hyoung Doo Shin
1Department of Life Science, Sogang University, Seoul 121-742, Korea.
2Department of Genetic Epidemiology, SNP Genetics, Inc., Rm 1407, Complex B, WooLim Lion's Valley, Seoul 153-801, Korea.
3Department of Internal Medicine and Liver Research Institute, Seoul National University, Seoul 110-744, Korea.
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: BIRC5; survivin; hepatitis B virus (HBV); hepatocellular carcinoma (HCC); liver cirrhosis (LC); polymorphism


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