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

被引：27
作者：
Castro, Rita [1 ]
Barroso, Madalena [1 ]
Rocha, Monica [1 ]
Esse, Ruben [1 ]
Ramos, Ruben [1 ]
Ravasco, Paula [2 ]
Rivera, Isabel [1 ]
de Almeida, Isabel Tavares [1 ]
机构：
[1] Univ Lisbon, Metab & Genet Grp, Res Inst Med & Pharmaceut Sci IMed UL, Fac Pharm, P-1649039 Lisbon, Portugal
[2] Univ Lisbon, Fac Med, Inst Mol Med, Unidade Nutr & Metab, P-1649039 Lisbon, Portugal
来源：
CLINICAL BIOCHEMISTRY | 2010年 / 43卷 / 7-8期
关键词：
Transcobalamin polymorphism; Vitamin B12 delivery; Homocysteine; TRANSCOBALAMIN CODON-259 POLYMORPHISM; PLASMA HOMOCYSTEINE; VASCULAR-DISEASE; RISK FACTOR; GENE; DNA; MTHFR; ASSOCIATION; MUTATIONS; DIAGNOSIS;
D O I：
10.1016/j.clinbiochem.2010.01.015
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
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 776C>G 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 776C>G 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 776C>G genotype exerts a significant influence upon B-12 cellular delivery. (C) 2010 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.
引用
收藏
页码：645 / 649
页数：5
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