title: Intronic SNP rs3811647 of the human transferrin gene modulates its expression in hepatoma cells.
abstract: BACKGROUND
  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.
  
  
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Metabolism and Nutrition, Institute of Food Science, Techonology and Nutrition, Spanish National Research Council, CSIC, Madrid, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Blanco-Rojo
authors.forename: H K
authors.initials: HK
authors.lastname: Bayele
authors.forename: S K S
authors.initials: SK
authors.lastname: Srai
authors.forename: M Pilar
authors.initials: MP
authors.lastname: Vaquero
mesh_terms: D001665:Binding Sites; D006528:Carcinoma, Hepatocellular / Q000235:genetics* / Q000378:metabolism*; D045744:Cell Line, Tumor; D006801:Humans; D007438:Introns / Q000235:genetics*; D016297:Mutagenesis, Site-Directed; D010957:Plasmids / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D014162:Transfection; D014168:Transferrin / Q000096:biosynthesis* / Q000235:genetics*
chemical_list: D014168:Transferrin