Work

Intronic SNP rs3811647 of the human transferrin gene modulates its expression in hepatoma cells.

Year: 2012

Type: article

Abstract: INTRODUCTION: 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 (VarG-Tf-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.

Source: PubMed

DOI: 10.3305/nh.2012.27.6.6154

Authors: R Blanco-Rojo, H K Bayele, S K S Srai, M Pilar Vaquero

Institutions: Consejo Superior de Investigaciones Científicas, Instituto de Ciencia y Tecnología de Alimentos y Nutrición, University College London

Language: English

Topic: Iron Metabolism and Disorders

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funder: Biotechnology and Biological Sciences Research Council