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KMID : 1039320190190010046
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Journal of Liver Cancer
2019 Volume.19 No. 1 p.46 ~ p.54
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Effect of PTEN Polymorphism on the Development of Hepatitis B Virus-associated Hepatocellular Carcinoma
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Kim Soon-Sun
Eun Jung-Woo
Cho Hyo-Jung
Lee Hyun-Young
Seo Chul-Won
Lee Gil-Ho
Yoon So-Young
Noh Choong-Kyun
Cho Sung-Won
Cheong Jae-Youn
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Abstract
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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.
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KEYWORD
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PTEN, Polymorphism, single nucleotide, Hepatocellular carcinoma, Hepatitis B virus
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