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

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.

journal_name

Nutr Hosp

journal_title

Nutricion hospitalaria

authors

Blanco-Rojo R,Bayele HK,Srai SK,Vaquero MP

doi

10.3305/nh.2012.27.6.6154

subject

Has Abstract

pub_date

2012-11-01 00:00:00

pages

2142-5

issue

6

eissn

0212-1611

issn

1699-5198

pii

S0212-16112012000600048

journal_volume

27

pub_type

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