Saad Faten, Gadallah Mahmoud, Daif Ahmed, Bedair Nahed, Sakr Moustafa A
Molecular Diagnostics and Therapeutics Department, Genetic Engineering and Biotechnology Research Institute (GEBRI), University of Sadat City, Sadat City, Egypt.
J Genet Eng Biotechnol. 2021 Jan 7;19(1):3. doi: 10.1186/s43141-020-00106-x.
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.
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.
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.
已发现乙酰肝素酶活性参与人类癌症的发展和生长。乙酰肝素酶（HPSE）基因单核苷酸多态性（SNP）已被发现与不同的人类癌症相关。在本研究中，我们通过开展一项全面的病例对照初步研究，调查HPSE SNP是否为肝细胞癌（HCC）的危险因素。采用改良的扩增阻滞突变系统（ARMS PCR）和聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析，对70例经诊断为HCC的患者和30例健康对照进行HPSE rs12331678和rs12503843基因分型。
HPSE rs12331678的分布显示，两个队列在基因型或等位基因分布上均无统计学显著差异，但rs12503843（T等位基因）与整个样本中的HCC风险存在显著相关性（P = 0.042）。在HCC组中，未观察到HPSE rs12331678和rs12503843基因多态性与所有临床病理指标或基于HCV携带者的SNP分层之间存在显著关联。
我们的研究结果首次表明了埃及HCC患者中HPSE基因SNP的特征，并且我们的研究结果揭示了HPSE rs12503843（T等位基因）与HCC易感性之间存在关联。
