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Title: The TCN2 776C> G polymorphism correlates with vitamin B12 cellular delivery in healthy adult populations
Authors: Castro, Rita
Barroso, Madalena
Rocha, Mónica
Esse, Ruben
Ramos, Ruben
Ravasco, Paula
Rivera, Isabel
Almeida, Isabel Tavares de
Keywords: Transcobalamin polymorphism
Vitamin B12 delivery
Issue Date: 2010
Publisher: Elsevier
Citation: Clinical Biochemistry 43(2010)645–649
Abstract: 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.
Description: © 2010 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.
Peer review: yes
ISSN: 0009-9120
Appears in Collections:IMM - Artigos em Revistas Internacionais

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