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与维生素E状态相关的基因变异

Genetic Variations Involved in Vitamin E Status.

作者信息

Borel Patrick, Desmarchelier Charles

机构信息

NORT, Aix-Marseille Université, INRA, INSERM, 13005 Marseille, France.

出版信息

Int J Mol Sci. 2016 Dec 13;17(12):2094. doi: 10.3390/ijms17122094.

DOI:10.3390/ijms17122094
PMID:27983595
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5187894/
Abstract

Vitamin E (VE) is the generic term for four tocopherols and four tocotrienols that exhibit the biological activity of α-tocopherol. VE status, which is usually estimated by measuring fasting blood VE concentration, is affected by numerous factors, such as dietary VE intake, VE absorption efficiency, and VE catabolism. Several of these factors are in turn modulated by genetic variations in genes encoding proteins involved in these factors. To identify these genetic variations, two strategies have been used: genome-wide association studies and candidate gene association studies. Each of these strategies has its advantages and its drawbacks, nevertheless they have allowed us to identify a list of single nucleotide polymorphisms associated with fasting blood VE concentration and α-tocopherol bioavailability. However, much work remains to be done to identify, and to replicate in different populations, all the single nucleotide polymorphisms involved, to assess the possible involvement of other kind of genetic variations, e.g., copy number variants and epigenetic modifications, in order to establish a reliable list of genetic variations that will allow us to predict the VE status of an individual by knowing their genotype in these genetic variations. Yet, the potential usefulness of this area of research is exciting with regard to personalized nutrition and for future clinical trials dedicated to assessing the biological effects of the various isoforms of VE.

摘要

维生素E(VE)是四种生育酚和四种生育三烯酚的统称,它们都具有α-生育酚的生物活性。VE状态通常通过测量空腹血中VE浓度来评估,它受多种因素影响,如膳食VE摄入量、VE吸收效率和VE分解代谢。这些因素中的几个又反过来受到编码参与这些因素的蛋白质的基因中的遗传变异的调节。为了识别这些遗传变异,人们采用了两种策略:全基因组关联研究和候选基因关联研究。这些策略各有优缺点,但它们使我们能够识别出一系列与空腹血VE浓度和α-生育酚生物利用度相关的单核苷酸多态性。然而,仍有许多工作要做,即识别所有涉及的单核苷酸多态性并在不同人群中进行复制,评估其他类型遗传变异(如拷贝数变异和表观遗传修饰)的可能参与情况,以便建立一份可靠的遗传变异清单,使我们能够通过了解个体在这些遗传变异中的基因型来预测其VE状态。然而,就个性化营养以及未来致力于评估VE各种异构体生物学效应的临床试验而言,这一研究领域的潜在用途令人兴奋。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4b0/5187894/786b4251a11c/ijms-17-02094-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4b0/5187894/786b4251a11c/ijms-17-02094-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4b0/5187894/786b4251a11c/ijms-17-02094-g001.jpg

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Complexity of vitamin E metabolism.维生素E代谢的复杂性。
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