Effect of PTEN Polymorphism on the Development of Hepatitis B Virus-associated Hepatocellular Carcinoma
- Author:
Soon Sun KIM
1
;
Jung Woo EUN
;
Hyo Jung CHO
;
Hyun Young LEE
;
Chul Won SEO
;
Gil Ho LEE
;
So Young YOON
;
Choong Kyun NOH
;
Sung Won CHO
;
Jae Youn CHEONG
Author Information
- Publication Type:Original Article
- Keywords: PTEN; Polymorphism, single nucleotide; Hepatocellular carcinoma; Hepatitis B virus
- MeSH: Alleles; Carcinoma, Hepatocellular; Genes, Tumor Suppressor; Haplotypes; Hepatitis B virus; Hepatitis B; Hepatitis; Humans; Liver Cirrhosis; Polymorphism, Genetic; Polymorphism, Single Nucleotide
- From:Journal of Liver Cancer 2019;19(1):46-54
- CountryRepublic of Korea
- Language:English
- Abstract: BACKGROUND/AIMS: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: These findings suggest that genetic polymorphisms in PTEN may affect HCC development in patients with chronic HBV infection.
