FokI polymorphism in vitamin D receptor gene and its association with hepatocellular carcinoma in Egyptian patients with chronic liver disease

Aim: To assess the relationship between vitamin D receptor (VDR) gene polymorphisms at FokI site and hepatocellular carcinoma (HCC) in chronic liver disease patients. Methods: The study enrolled 70 patients with chronic liver disease; of them 20 patients had HCC. Specific primer sequences of the VDR FokI C > T single nucleotide polymorphisms rs10735810, was used to amplify VDR gene. Allele specific restriction enzymes FokI was used to digest the amplified PCR products and the bands of specific PCR-RFLP fragments were resolved on 2% Ethidium bromide agrose gel electrophoresis. FokI genotypes was identified by their specific banding pattern on the gel electrophoresis via ultraviolet illumination. Results: In chronic liver disease the frequency of FF, Ff and ff genotypes were 50%, 43% and 7% respectively. The wild type F and the mutant f allele had a frequency of 71%, 29% respectively. In HCC group the frequencies of FokI FF, Ff and ff genotypes were 55%, 30% and 15%; relative to 48%, 48% and 4% in non HCC respectively. F allele had a frequency of 72%, and 70%; and f allele had 28% and 30% respectively. VDR FokI genotypes and allele frequencies were not significantly associated with HCC in chronic liver diseases. The carriage of FokI polymorphisms ff genotype was associated with increased tumor size and higher AFP levels. FokI polymorphisms did not show any significance association with tumor stage, portal vein invasion or lymph node metastasis. Conclusion: VDR FokI genotypes and allele frequencies were neither significantly associated with HCC, HCV nor were risk for progression of chronic liver disease into decompensated liver disease.