R Blanco-Rojo1, H K Bayele, S K S Srai, M Pilar Vaquero. 1. Department of Metabolism and Nutrition, Institute of Food Science, Techonology and Nutrition, Spanish National Research Council, CSIC, Madrid, Spain.
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.
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.
Authors: Laura Stachowska; Dorota Koziarska; Beata Karakiewicz; Artur Kotwas; Anna Knyszyńska; Marcin Folwarski; Karolina Dec; Ewa Stachowska; Viktoria Hawryłkowicz; Monika Kulaszyńska; Joanna Sołek-Pastuszka; Karolina Skonieczna-Żydecka Journal: Int J Environ Res Public Health Date: 2022-06-04 Impact factor: 4.614