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Background <p>Hepatocellular carcinoma (HCC) is the most dominant form of cancer. Its development is influenced by environmental exposures, lifestyle factors, and genetic predispositions. Beyond its classical function in skeleton and mineral metabolism, vitamin D also plays critical roles in immune regulation, tissue fibrosis, and tumor progression through interaction with the vitamin D receptor (<i>VDR</i>). This study aimed to investigate whether variants in the <i>VDR</i> gene are associated with HCC risk in an Egyptian cohort.</p> Methods <p>One hundred HCC cases were recruited along with 100 age- and sex-matched healthy controls. Genotyping of the <i>VDR FokI (rs2228570)</i> and <i>TaqI (rs731236)</i> polymorphisms was performed by means of ARMS-PCR assay.</p> Results <p>The <i>VDR FokI (rs2228570 f-allele)</i> and <i>TaqI (rs731236 t-allele)</i> were detected at significantly higher frequencies among HCC patients than healthy participants, and both were associated with increased disease risk (<i>p =</i> 0.002 and <i>p =</i> 0.006, respectively).</p> Conclusion <p>The results indicate that those variants in the <i>VDR FokI</i> and <i>TaqI</i> genes may increase the predisposition to hepatocellular carcinoma among Egyptians.</p>

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Genetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月11日

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

摘要

Background

Hepatocellular carcinoma (HCC) is the most dominant form of cancer. Its development is influenced by environmental exposures, lifestyle factors, and genetic predispositions. Beyond its classical function in skeleton and mineral metabolism, vitamin D also plays critical roles in immune regulation, tissue fibrosis, and tumor progression through interaction with the vitamin D receptor (VDR). This study aimed to investigate whether variants in the VDR gene are associated with HCC risk in an Egyptian cohort.

Methods

One hundred HCC cases were recruited along with 100 age- and sex-matched healthy controls. Genotyping of the VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms was performed by means of ARMS-PCR assay.

Results

The VDR FokI (rs2228570 f-allele) and TaqI (rs731236 t-allele) were detected at significantly higher frequencies among HCC patients than healthy participants, and both were associated with increased disease risk (p = 0.002 and p = 0.006, respectively).

Conclusion

The results indicate that those variants in the VDR FokI and TaqI genes may increase the predisposition to hepatocellular carcinoma among Egyptians.