Heparanase (HPSE) gene polymorphism (rs12503843) contributes as a risk factor for hepatocellular carcinoma (HCC): a pilot study among Egyptian patients

Abstract

Background: Heparanase activity was found to be included in human cancer development and growth. Heparanase (HPSE) gene single nucleotide polymorphisms (SNPs) have been found to be correlated with different human cancers. In the current study, we investigated whether HPSE SNPs were a hepatocellular carcinoma (HCC) risk factor by carrying out a comprehensive case-control pilot study. HPSE rs12331678 and rs12503843 were genotyped in 70 HCC-diagnosed patients and 30 healthy controls by modified amplification refractory mutation system (ARMS PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.

Results: HPSE rs12331678 distributions showed that there were no statistically significant differences between both cohorts either in genotypic or allelic distribution but there was a significant correlation between the rs12503843 (T allele) and the HCC risk in the whole samples (P = 0.042). No significant association was observed between the HPSE rs12331678 and rs12503843 gene polymorphisms and all clinicopathologic markers or with SNP stratification based on HCV carrier in HCC groups.

Conclusion: Our findings suggest for the first time the HPSE gene SNP characterization in HCC Egyptian patients, and our findings reveal there were associations between the HPSE rs12503843 (T allele) and the susceptibility to HCC.

Keywords: ARMS PCR; HPSE gene; Hepatocellular carcinoma; PCR-RFLP; Single nucleotide polymorphisms.

Fig. 1

The HPSE SNP genotyping from Egyptian patients with HCC and control individuals by agarose gel electrophoresis. a genotyping of HPSE rs12331678 by ARMS-PCR as the first 2 lanes are CC genotype and the lanes 3 and 4 are CA genotype. b genotyping of HPSE rs12503843 by RFLP-PCR; CC genotype product 237 bp, while CT genotype 237 and 261 bp and TT genotype 261 bp