The TCN2 776CNG polymorphism correlates with vitamin B(12) cellular delivery in healthy adult populations
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The TCN2 776CNG polymorphism correlates with vitamin B(12) cellular delivery in healthy adult populations. / Castro, Rita; Barroso, Madalena; Rocha, Mónica; Esse, Ruben; Ramos, Ruben; Ravasco, Paula; Rivera, Isabel; de Almeida, Isabel Tavares.
in: CLIN BIOCHEM, Jahrgang 43, Nr. 7-8, 05.2010, S. 645-9.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - The TCN2 776CNG polymorphism correlates with vitamin B(12) 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 - 2010 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.
PY - 2010/5
Y1 - 2010/5
N2 - OBJECTIVES: Vitamin B(12), or B(12), is an essential nutrient for humans, and its deficiency is a public health problem, especially in elderly population. Around 30% of circulating total B(12) levels are attached to transcobalamin II (TCN2), being referred as holotranscobalamin (holo-TC), and representing the biologically active fraction. After cellular uptake, B(12) participates in the homocysteine (Hcy) metabolism. The potential influence of the described TCN2 776CNG polymorphism upon B(12) 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 776CNG polymorphism was screened by PCR-RFLP in 122 individuals. Concentrations of plasma total B(12), 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 B(12) nor total Hcy plasma concentrations, confirming that the TCN2 776CNG genotype exerts a significant influence upon B(12) cellular delivery.
AB - OBJECTIVES: Vitamin B(12), or B(12), is an essential nutrient for humans, and its deficiency is a public health problem, especially in elderly population. Around 30% of circulating total B(12) levels are attached to transcobalamin II (TCN2), being referred as holotranscobalamin (holo-TC), and representing the biologically active fraction. After cellular uptake, B(12) participates in the homocysteine (Hcy) metabolism. The potential influence of the described TCN2 776CNG polymorphism upon B(12) 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 776CNG polymorphism was screened by PCR-RFLP in 122 individuals. Concentrations of plasma total B(12), 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 B(12) nor total Hcy plasma concentrations, confirming that the TCN2 776CNG genotype exerts a significant influence upon B(12) cellular delivery.
KW - Adult
KW - Female
KW - Folic Acid
KW - Genotype
KW - Homocysteine
KW - Humans
KW - Male
KW - Middle Aged
KW - Phenotype
KW - Polymorphism, Genetic
KW - Transcobalamins
KW - Vitamin B 12
KW - Journal Article
KW - Research Support, Non-U.S. Gov't
U2 - 10.1016/j.clinbiochem.2010.01.015
DO - 10.1016/j.clinbiochem.2010.01.015
M3 - SCORING: Journal article
C2 - 20144600
VL - 43
SP - 645
EP - 649
JO - CLIN BIOCHEM
JF - CLIN BIOCHEM
SN - 0009-9120
IS - 7-8
ER -
