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

Abstract

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 poly-morphisms (SNPs), six common variants with frequen-cies higher than 0.05 were selected for larger-scale gen-otyping (n=1,066). Results of the study did not show any association between the promoter region poly-morphisms and the clearance of hepatitis B virus (HBV) infection and hepatocellular carcinoma (HCC) occurr-ence. This is in line with a previous study in which poly-morphisms 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 hap-lotype-5) on the onset age of HCC and/or HCC occur-rence, 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), hep-atocellular carcinoma (HCC), liver cirrhosis (LC), poly-morphism