Genetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients.
PMID 41668036 | PMCID PMC12998322 | DOI 10.1186/s12920-026-02322-9 · BMC medical genomics · 2026
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “Genetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | hepatocellular carcinoma | “Genetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “METHODS: One hundred HCC cases were recruited along with 100 age- and sex-matched healthy controls.” | 0.80 | saudi_context_rules_v1 |
| variant | rs2228570 | “Genetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients.” | 0.90 | hgvs_regex_v1 |
| variant | rs731236 | “Genetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients.” | 0.90 | hgvs_regex_v1 |