J Liver Cancer.  2019 Mar;19(1):46-54. 10.17998/jlc.19.1.46.

Effect of PTEN Polymorphism on the Development of Hepatitis B Virus-associated Hepatocellular Carcinoma

  • 1Department of Gastroenterology, Ajou University School of Medicine, Suwon, Korea. jaeyoun620@gmail.com
  • 2Clinical Trial Center, Ajou University Hospital, Suwon, Korea.
  • 3Department of Biomedical Sciences, Ajou University Graduate School of Medicine, Suwon, Korea.


Phosphatase and tensin homolog (PTEN) is a known tumor suppressor gene that is downregulated in hepatocellular carcinoma (HCC). Here, we investigated the association between single nucleotide polymorphisms (SNPs) of PTEN and HCC development in patients with hepatitis B virus (HBV) infection.
Six SNPs of PTEN at positions rs1234221, rs1903860, rs1234220, rs1903858, rs2299941, and rs17431184 were analyzed in a development population (417 chronic HBV carriers without HCC and 281 chronic HBV carriers with HCC). PTEN rs1903858, rs1903860, and rs2299941 SNPs were further assessed for the development of HCC in a validation population of 200 patients with HBV-related liver cirrhosis.
In the development population, PTEN rs1903860 C allele, rs1903858 G allele, and rs2299941 G allele were associated with a low risk of HCC. The haplotype A-T-A-A-A was associated with an increased risk of HCC (recessive model; odds ratio=2.277, 95% confidence interval [CI] =1.144-4.532, P=0.019). In the validation population, PTEN rs2299941 G allele was the only significant protective genetic polymorphism related to HCC development after adjustment for age and sex (hazard ratio=0.582, 95% CI =0.353–0.962, P=0.035).
These findings suggest that genetic polymorphisms in PTEN may affect HCC development in patients with chronic HBV infection.


PTEN; Polymorphism, single nucleotide; Hepatocellular carcinoma; Hepatitis B virus
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