TY - JOUR
T1 - The TCN2 776C>G polymorphism correlates with vitamin B12 cellular delivery in healthy adult populations
AU - Castro, Rita
AU - Barroso, Madalena
AU - Rocha, Mónica
AU - Esse, Ruben
AU - Ramos, Ruben
AU - Ravasco, Paula
AU - Rivera, Isabel
AU - de Almeida, Isabel Tavares
N1 - Copyright:
Copyright 2010 Elsevier B.V., All rights reserved.
PY - 2010/5
Y1 - 2010/5
N2 - 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.
AB - 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.
KW - Homocysteine
KW - Transcobalamin polymorphism
KW - Vitamin B12 delivery
UR - http://www.scopus.com/inward/record.url?scp=77951207405&partnerID=8YFLogxK
U2 - 10.1016/j.clinbiochem.2010.01.015
DO - 10.1016/j.clinbiochem.2010.01.015
M3 - Article
C2 - 20144600
AN - SCOPUS:77951207405
SN - 0009-9120
VL - 43
SP - 645
EP - 649
JO - Clinical Biochemistry
JF - Clinical Biochemistry
IS - 7-8
ER -