Abstract
Background: HCV is a major risk factor for HCC; however, the exact mechanism of hepatocarcinogenesis is still not
fully understood. Host genetic factors have been reported to play a significant role. Experimental studies support
the tumor inhibitory effect of vitamin D on HCC cells. Several single nucleotide polymorphisms (SNPs) have been
depicted in the vitamin D receptor (VDR) gene. We aimed to assess whether any of these polymorphisms could be
significantly associated with increased risk of HCC.
Results: This study was conducted on 76 patients with HCV-related liver cirrhosis (48 patients had HCC on top of
cirrhosis, and the other 28 had liver cirrhosis only). All patients underwent full medical history assessment, clinical
examination, laboratory investigations, abdominal ultrasonography, and genotyping of the VDR gene. HCC patients
had a significantly higher frequency of ApaI CC genotype compared with those patients without HCC. There is no
statistically significant difference between the studied groups at any TaqI genotypes, but the carriage of the ApaI
CC genotype had a significant association with liver disease severity in both patients groups compared with ApaI
CA/AA genotypes. The carriage of the ApaI CC genotype was an independent predictor for HCC in HCV-related liver
cirrhosis.
Conclusions: VDR ApaI polymorphism is significantly associated with the development of HCC; thus, ApaI CC
genotype could be used as an important molecular marker to predict the risk of HCC in patients with HCV-related
liver cirrhosis.