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

대한간암학회지 2019년 19권 1호 p.46 ~ 54
김순선, 은정우, 조효정, 이현영, Seo Chul-Won, 이길호, 윤소영, 노충균, 조성원, 정재연,
소속 상세정보
김순선 ( Kim Soon-Sun ) - Ajou University School of Medicine Department of Gastroenterology
은정우 ( Eun Jung-Woo ) - Ajou University School of Medicine Department of Gastroenterology
조효정 ( Cho Hyo-Jung ) - Ajou University School of Medicine Department of Gastroenterology
이현영 ( Lee Hyun-Young ) - Ajou University Graduate School of Medicine Department of Biomedical Sciences
 ( Seo Chul-Won ) - Ajou University Graduate School of Medicine Department of Biomedical Sciences
이길호 ( Lee Gil-Ho ) - Ajou University School of Medicine Department of Gastroenterology
윤소영 ( Yoon So-Young ) - Ajou University School of Medicine Department of Gastroenterology
노충균 ( Noh Choong-Kyun ) - Ajou University School of Medicine Department of Gastroenterology
조성원 ( Cho Sung-Won ) - Ajou University School of Medicine Department of Gastroenterology
정재연 ( Cheong Jae-Youn ) - Ajou University School of Medicine Department of Gastroenterology

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.

키워드

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

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