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Intronic SNP rs3811647 of the human transferrin gene modulates its expression in hepatoma cells | El SNP intrónico rs3811647 del gen de la transferrina humano, modula su expresión en células hepáticas

AuthorsBlanco Rojo, R. ; Bayele, Henry K.; Srai, S. K. S.; Vaquero, M. Pilar ; Vaquero, M. Pilar
Issue Date2012
PublisherAula Médica Ediciones
CitationNutricion Hospitalaria 27: 2142- 2145 (2012)
AbstractIntroduction: Transferrin (Tf) exerts a crucial function in the maintenance of systemic iron homeostasis. The expression of the Tf gene is controlled by transcriptional mechanism, although little is known about genetic factors influence. Objective: To study the role of rs3811647 in Tf expression using an in-vitro assay on hepatoma cells. Design and Methods: Hep3B cells were co-transfected with constructs containing A (VarA-Tf-luc) and G (VarGTf- luc) variants of rs3811647, using luciferase as a surrogate reporter of Tf expression. Results: Luciferase assays showed a higher intrinsic enhancer activity (p < 0.05) in the A compared with the G variant. In silico analysis of SNP rs3811647 showed that the A allele might constitute a binding site for the transcription factor glucocorticoid receptor (GR). Conclusion: The A allele of SNP rs3811647 increases Tf expression in a manner that might underlie inter-individual variation in serum transferrin levels observed in different population groups.
Identifiersdoi: 10.3305/nh.2012.27.6.6154
issn: 0212-1611
Appears in Collections:(ICTAN) Artículos
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