Association of vitamin D receptor gene polymorphisms ApaI (rs7975232) and BsmI (rs1544410) with hepatocellular carcinoma susceptibility in Egyptian patients.

BACKGROUND: Globally, hepatocellular carcinoma (HCC) is a widespread cancer, with a rising incidence rate. Polymorphisms in the vitamin D receptor (VDR) gene were found to be related to the emergence of tumors in various organs. AIM: This study aimed to examine the association of the polymorphic VDR gene with HCC development in Egyptian patients. METHODS: Gene polymorphism analyses for VDR ApaI (rs7975232 A > C) and VDR BsmI (rs1544410 C > T) variants were performed for 100 patients with HCCs and 100 cancer-free controls, using the ARMS-PCR. RESULTS: Regarding ApaI (rs7975232 C > A) SNP, the percentage of variant C-allele was substantially higher in the HCC group than in the control (p < 0.001). Additionally, the ApaI (rs7975232) variant conferred a ~ 4-fold, 4-fold, and 5-fold risk for HCC, respectively, through the codominant (OR = 4.0), dominant (OR = 3.77), and allelic (OR = 5.44) models. Moreover, the dominant model of ApaI (rs7975232) showed a progressive disease state defined by the higher ascites grade, higher tumor grade, higher histopathological grade, larger tumor size, and more lymph node invasion compared to those carrying the wild-type genotype (p < 0.001, < 0.001, 0.002, 0.01, < 0.001 and 0.02, respectively). Conversely, the BsmI (rs1544410 C > T) SNP showed no significant association with the HCC incidence and outcome. CONCLUSION: our study revealed that the ApaI (rs7975232 A > C) SNP conferred a considerable risk for HCC incidence and progression among Egyptian patients. The study is limited by the relatively small sample size and restriction to an Egyptian cohort; further studies in larger and ethnically diverse populations are required to confirm these findings.