Background: Phosphatase and tensin homolog (PTEN) is known as anti-oncogene that is located on chromosome 10q23.3. This gene has high mutations frequency in different human cancer. We investigated the prevalence of single nucleotide polymorphisms (SNP) in the PTEN gene rs2299939 in patients with hepatocellular carcinoma (HCC) and cirrhosis associated with hepatitis C genotype 4.
Material and Method: The study included twenty-five patients with HCC. Twenty-five patients with cirrhosis. All patients had chronic viral hepatitis C genotype 4. Molecular Study of SNP of PTEN rs2299939 polymorphism was carried out by restriction fragment length polymorphism and polymerase chain reaction.
Results: There was statistically significant increase in GG genotype OR 2.2 (CI-95%, 0.8-5.6) in patients cirrhosis and in patients with HCC compared to the control group (P=0.0001). There was significant increase in GT genotype OR 1.9 (0.6-5.8) and TT genotype OR 0.7 (0.5-1.1) in control compared to patients with cirrhosis and with HCC associated with HCV (P=0.0001). The frequency of G alleles had statistically significant prevalence in patients compared to control (P=0.0001) while T alleles had statistically significant increase in control compared to the patients (P=0.0001).
Conclusion: The GG genotype of PTEN gene rs2299939 showed significant increase in patients with HCC and cirrhosis associated with HCV genotype 4. On the other hand, the TT and GT genotypes may be associated with the decreased risk of the development of HCC. Further studies are required to validate these findings.
PTEN, rs2299939 polymorphisms, hepatocellular carcinoma, hepatitis C, cirrhosis.