title: Hepatitis B virus mutations, expression quantitative trait loci for PTPN12, and their interactions in hepatocellular carcinoma.
abstract: Previously we identified that HBV(Hepatitis B virus) sequence variation, which may interact with host human leukocyte antigen (HLA) genetic variation, could influence host risk of hepatocellular carcinoma (HCC). More HBV-host interactions need to be identified. Protein tyrosine phosphatase nonreceptor type 12 (PTPN12), serves as an antagonist to tyrosine kinase signaling, may play integral roles in immune response against HBV infection and the development of HCC. Rs11485985 was an expression quantitative trait loci (eQTL) for PTPN12 by bioinformatics analyses. In this study, we genotyped the PTPN12 eQTL and sequenced the HBV region EnhII/BCP/PC in a case-control cohort including 1507 HBV-related HCC cases and 1560 HBV persistent carriers as controls. The variant genotype GG of rs11489585 increased HCC risk compared to the HBV persistent carriers (adjusted OR = 2.03, 95% confidence interval [CIs] = 1.30-3.18). We also detected borderline significant associations of PTPN12 eQTL rs11489585 with HBV mutations (P = 0.05 for G1799C). Taken together, PTPN12 may influence HCC risk accompanied by HBV mutations.
authors.affiliation: Department of Epidemiology, Collaborative Innovation Center For Cancer Personalized Medicine, School of Public Health, Nanjing Medical University, Nanjing, 211166, China.|Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center of Cancer Medicine, Nanjing Medical University, Nanjing, 211166, China.
authors.forename: Ci
authors.initials: C
authors.lastname: Song
authors.affiliation: Pathology Center and Department of Pathology, Soochow University, Suzhou, China.
authors.forename: Yao
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Epidemiology, Collaborative Innovation Center For Cancer Personalized Medicine, School of Public Health, Nanjing Medical University, Nanjing, 211166, China.
authors.forename: Lu
authors.initials: L
authors.lastname: Xu
authors.affiliation: Nanjing Maternity and Child Health Care Institute, Nanjing Maternity and Child Health Care Hospital Affiliated with Nanjing Medical University, Nanjing, China.
authors.forename: Juan
authors.initials: J
authors.lastname: Wen
authors.affiliation: State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China.
authors.forename: Deke
authors.initials: D
authors.lastname: Jiang
authors.affiliation: Qidong Liver Cancer Institute, Qidong, China.
authors.forename: Jianguo
authors.initials: J
authors.lastname: Chen
authors.affiliation: Department of Infection Diseases, Jiangsu Province Center for Disease Prevention and Control, Nanjing, China.
authors.forename: Xiangjun
authors.initials: X
authors.lastname: Zhai
authors.affiliation: Department of Epidemiology, Collaborative Innovation Center For Cancer Personalized Medicine, School of Public Health, Nanjing Medical University, Nanjing, 211166, China.|Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center of Cancer Medicine, Nanjing Medical University, Nanjing, 211166, China.
authors.forename: Zhibin
authors.initials: Z
authors.lastname: Hu
authors.affiliation: Digestive Endoscopy Center, the First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
authors.forename: Li
authors.initials: L
authors.lastname: Liu
authors.affiliation: Department of Hepatobiliary Surgery, Nantong Tumor Hospital, Nantong, China.
authors.forename: Jibin
authors.initials: J
authors.lastname: Liu
mesh_terms: D000483:Alleles; D006528:Carcinoma, Hepatocellular / Q000209:etiology*; D016022:Case-Control Studies; D004198:Disease Susceptibility; D015870:Gene Expression; D005838:Genotype; D006509:Hepatitis B / Q000150:complications / Q000235:genetics* / Q000821:virology*; D006515:Hepatitis B virus / Q000235:genetics*; D054884:Host-Pathogen Interactions / Q000235:genetics; D006801:Humans; D008113:Liver Neoplasms / Q000209:etiology*; D009154:Mutation; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D054594:Protein Tyrosine Phosphatase, Non-Receptor Type 12 / Q000235:genetics*; D040641:Quantitative Trait Loci
chemical_list: C516738:PTPN12 protein, human; D054594:Protein Tyrosine Phosphatase, Non-Receptor Type 12
keywords: HBV mutations; HCC; PTPN12; eQTL; interaction; susceptibility