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Background <p>Globally, hepatocellular carcinoma (HCC) is a widespread cancer, with a rising incidence rate. Polymorphisms in the vitamin D receptor (<i>VDR</i>) gene were found to be related to the emergence of tumors in various organs.</p> Aim <p>This study aimed to examine the association of the polymorphic <i>VDR</i> gene with HCC development in Egyptian patients.</p> Methods <p>Gene polymorphism analyses for <i>VDR ApaI</i> (rs7975232 A &gt; C) and <i>VDR BsmI</i> (rs1544410 C &gt; T) variants were performed for 100 patients with HCCs and 100 cancer-free controls, using the ARMS-PCR.</p> Results <p>Regarding <i>ApaI</i> (rs7975232 C &gt; A) SNP, the percentage of variant C-allele was substantially higher in the HCC group than in the control (<i>p</i> &lt; 0.001). Additionally, the <i>ApaI</i> (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 <i>ApaI</i> (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 (<i>p</i> &lt; 0.001, &lt; 0.001, 0.002, 0.01, &lt; 0.001 and 0.02, respectively). Conversely, the <i>BsmI</i> (rs1544410 C &gt; T) SNP showed no significant association with the HCC incidence and outcome.</p> Conclusion <p>our study revealed that the <i>ApaI</i> (rs7975232 A &gt; 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.</p>

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

  • 期刊论文

  • 发表日期：

    2025年11月19日

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  • Salma Saleh Alrdahe,
  • Aishah E. Albalawi,
  • Doaa Bahaa Eldin Darwish,
  • Awatif M. E. Omran,
  • Nada Mohammed Almasaudi,
  • Afaf M. Elsaid,
  • Magdy M. Youssef

摘要

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.