Intronic SNP rs3811647 of the human transferrin gene modulates its expression in hepatoma cells
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R Blanco-Rojo1, H K Bayele, S K S Srai
1Department of Metabolism and Nutrition, Institute of Food Science, Techonology and Nutrition, Spanish National Research Council, CSIC, Madrid, Spain.
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.
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