Golestan University of Medical Sciences Repository

Association of the human astrocyte elevated gene-1 promoter variants with susceptibility to hepatocellular carcinoma

Motalleb, G. and Gholipour, N. and Samaei, N.M. (2014) Association of the human astrocyte elevated gene-1 promoter variants with susceptibility to hepatocellular carcinoma. Medical Oncology, 31 (4). ISSN 13570560 (ISSN)

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Abstract

Central role of astrocyte elevated gene-1 (AEG-1) in regulating diverse aspects of hepatocellular carcinoma (HCC) pathogenesis and association of its overexpression with HCC progression has been demonstrated. The positive regulatory regions of AEG-1 promoter contain several putative transcription factor binding sites critical for basal promoter activity. In this study, the aim was to explore the association of AEG-1 promoter variant with HCC. In this study, the human AEG-1 promoter including the region -538 to -42 was explored in 53 HCC patients and 108 healthy controls. The polymerase chain reaction-sequencing method was used for investigating AEG-1 promoter polymorphisms. A novel mutation in AEG-1 promoter in human HCC patients at a potential AP-2 binding site was explored. An A>C mutation was observed in -483 of AEG-1 promoter in 4 out of 53 HCC patients but not in 108 control individuals. Sequencing data showed genetic variations in 11 HCC patients and 3 healthy controls. Among them, one novel SNP was found in activator protein-1 (AP2), a transcription factor binding site (-483 A to C) that may be associated with the susceptibility to HCC (P = 0.012) but no associations were found for other observed variations. This mutation could be tumor-specific. AEG-1 promoter variant -483 A>C may be associated with the susceptibility to HCC in Iranian population. To our knowledge, this is the first study that has reported this association with the susceptibility to HCC. Therefore, further studies need to be conducted in larger sample sizes and other populations to validate these findings. © 2014 Springer Science+Business Media New York.

Item Type: Article
Additional Information: Unmapped bibliographic data: C7 - 916 [EPrints field already has value set] LA - English [Field not mapped to EPrints] J2 - Med. Oncol. [Field not mapped to EPrints] C2 - 24659263 [Field not mapped to EPrints] AD - Department of Biology, Faculty of Science, University of Zabol, P.O. Box 98615-53, Zabol, Iran [Field not mapped to EPrints] AD - Department of Human Genetic, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran [Field not mapped to EPrints] DB - Scopus [Field not mapped to EPrints]
Uncontrolled Keywords: Astrocyte elevated gene-1, Hepatocelluar carcinoma, Promoter, adult, article, astrocyte elevated gene 1, binding site, cancer susceptibility, controlled study, female, gene mutation, gene sequence, genetic association, genetic susceptibility, genetic variability, human, liver cell carcinoma, major clinical study, male, priority journal, promoter region, single nucleotide polymorphism, case control study, ethnology, genetic predisposition, genetics, Iran, liver cell carcinoma, liver tumor, middle aged, molecular genetics, nucleotide sequence, promoter region, sequence homology, cell adhesion molecule, MTDH protein, human, Base Sequence, Binding Sites, Carcinoma, Hepatocellular, Case-Control Studies, Cell Adhesion Molecules, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Genetic Variation, Humans, Iran, Liver Neoplasms, Male, Middle Aged, Molecular Sequence Data, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Sequence Homology, Nucleic Acid
Subjects: مقالات نمایه شده محققین دانشگاه در سایت ,Web of Science ,Scopus
موارد کلی
Divisions: معاونت تحقیقات و فناوری
Depositing User: GOUMS
Date Deposited: 14 Apr 2015 09:46
Last Modified: 09 May 2015 03:53
URI: http://eprints.goums.ac.ir/id/eprint/1727

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