The TCN2 776C>G polymorphism correlates with vitamin B12 cellular delivery in healthy adult populations

Rita Castro*, Madalena Barroso, Mónica Rocha, Ruben Esse, Ruben Ramos, Paula Ravasco, Isabel Rivera, Isabel Tavares de Almeida

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

28 Citations (Scopus)


Objectives: Vitamin B12, or B12, is an essential nutrient for humans, and its deficiency is a public health problem, especially in elderly population. Around 30% of circulating total B12 levels are attached to transcobalamin II (TCN2), being referred as holotranscobalamin (holo-TC), and representing the biologically active fraction. After cellular uptake, B12 participates in the homocysteine (Hcy) metabolism. The potential influence of the described TCN2 776C>G polymorphism upon B12 intracellular delivery is a current target of research and we aimed to investigate its biochemical significance upon a healthy adult population. Design and methods: The TCN2 776C>G polymorphism was screened by PCR-RFLP in 122 individuals. Concentrations of plasma total B12, holo-TC, total Hcy and folate, as well as red blood cell folate, were determined. Results and conclusions: The studied polymorphism is common in the Portuguese population and significantly affects holo-TC but neither total B12 nor total Hcy plasma concentrations, confirming that the TCN2 776C>G genotype exerts a significant influence upon B12 cellular delivery.
Original languageEnglish
Pages (from-to)645-649
Number of pages5
JournalClinical Biochemistry
Issue number7-8
Publication statusPublished - May 2010
Externally publishedYes


  • Homocysteine
  • Transcobalamin polymorphism
  • Vitamin B12 delivery


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