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

doi:10.1016/j.clinbiochem.2010.01.015

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 journal › Article › peer-review

31 Citations (Scopus)

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.

Original language	English
Pages (from-to)	645-649
Number of pages	5
Journal	Clinical Biochemistry
Volume	43
Issue number	7-8
DOIs	https://doi.org/10.1016/j.clinbiochem.2010.01.015
Publication status	Published - May 2010
Externally published	Yes

Keywords

Homocysteine
Transcobalamin polymorphism
Vitamin B12 delivery

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10.1016/j.clinbiochem.2010.01.015

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@article{df99f004d07441629cd6239793bd2894,

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

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.",

keywords = "Homocysteine, Transcobalamin polymorphism, Vitamin B12 delivery",

author = "Rita Castro and Madalena Barroso and M{\'o}nica Rocha and Ruben Esse and Ruben Ramos and Paula Ravasco and Isabel Rivera and \{de Almeida\}, \{Isabel Tavares\}",

year = "2010",

month = may,

doi = "10.1016/j.clinbiochem.2010.01.015",

language = "English",

volume = "43",

pages = "645--649",

journal = "Clinical Biochemistry",

issn = "0009-9120",

publisher = "Elsevier Inc.",

number = "7-8",

}

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

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 - https://www.scopus.com/pages/publications/77951207405

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 -

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

Abstract

Keywords

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