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Basic Characteristics of Mutations
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Mutation Site
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C2875A |
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Mutation Site Sentence
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The HBV mutations T1674C/G, A1762T/G1764A, G1896A, and T1753V in the EnhII/BCP/PC region and preS deletion,preS2 start codon mutation, C2875A, C76A, and C7A in the preS region, rather than the rs3783553 genotype, were significantly associated with an increased risk of HCC (Table 4). |
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Mutation Level
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Nucleotide level |
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Mutation Type
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Nonsynonymous substitution |
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Gene/Protein/Region
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PreS |
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Standardized Encoding Gene
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S
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Genotype/Subtype
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B;C |
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Viral Reference
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-
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Functional Impact and Mechanisms
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Disease
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Carcinoma, Hepatocellular
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Immune
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- |
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Target Gene
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-
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Clinical and Epidemiological Correlations
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Clinical Information
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Y |
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Treatment
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- |
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Location
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China |
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Literature Information
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PMID
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24748463
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Title
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Association of miRNA-122-binding site polymorphism at the interleukin-1 alpha gene and its interaction with hepatitis B virus mutations with hepatocellular carcinoma risk
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Author
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Du Y,Han X,Pu R,Xie J,Zhang Y,Cao G
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Journal
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Frontiers of medicine
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Journal Info
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2014 Jun;8(2):217-26
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Abstract
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This study was designed to investigate the contribution of miRNA-122-binding site polymorphism at the IL-1A gene and its multiplicative interactions with hepatitis B virus (HBV) mutations in the risk of hepatocellular carcinoma (HCC). A total of 1021 healthy controls, 302 HBV surface antigen (HBsAg) seroclearance subjects, and 2011 HBsAg-positive subjects (including 1021 HCC patients) were enrolled in this study. Quantitative PCR was used to genotype rs3783553. HBV mutations were determined by direct sequencing. Multivariate logistic regression analyses were performed to test the associations of rs3783553, mutations, and their interactions with the risk of HCC. No significant association was found between rs3783553 and the risk of HCC among healthy controls, HBsAg seroclearance subjects, HBsAg-positive subjects without HCC, and all controls. Additionally, rs3783553 was not significantly associated with chronic HBV infection, liver cirrhosis, HBV e antigen seroconversion, abnormal alanine aminotransferase, and high viral load (> 10(4) copies/ml). However, the TTCA insertion allele of rs3783553 was significantly associated with an increased frequency of HBV C7A mutation compared with homozygous TTCA deletion carriers [(del/ins + ins/ins) vs. del/del, adjusted odds ratio (OR)= 1.48, 95% confidence interval (CI)= 1.09-2.02, P = 0.013]. Multiplicative interaction of rs3783553 with HBV preS deletion significantly reduced the risk of HCC in males, with an adjusted OR of 0.64 (95% CI = 0.42-0.98; P = 0.041) after age and HBV genotype were adjusted. Although rs3783553 did not significantly affect genetic susceptibility to HBV-related HCC, its variant allele may predispose the host to selecting HBV C7A mutation during evolution and significantly reduce the risk of HCC caused by HBV preS deletion. This study provides an insight into the complex host-virus interaction in HBV-induced hepatocarcinogenesis and is helpful in determining HBsAg-positive subjects who are likely to develop HCC.
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Sequence Data
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-
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