Genetic Variations Associated with Vitamin A Status and Vitamin A Bioavailability.
Genetic Variations Associated with Vitamin A Status and Vitamin A Bioavailability.
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DOI：
10.3390/nu9030246
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发表时间：
2017-03-08
期刊：
影响因子：
5.9
通讯作者：
Desmarchelier C
中科院分区：
文献类型：
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作者：
Borel P;Desmarchelier C
维生素A(VA)的血药浓度受多种因素的影响，包括膳食中的维生素A摄入量、维生素A吸收效率、维生素A原类胡萝卜素转化为维生素A的效率、组织摄取等。这些因素主要以不同的分子形式存在，主要是视黄醇和维生素A原类胡萝卜素，外加维生素A代谢相关的蛋白质编码基因。全基因组关联研究和候选基因关联研究已经确定了与血液中视黄醇和β-胡萝卜素浓度以及β-胡萝卜素生物利用度相关的单核苷酸多态(SNP)。这些遗传变异可能至少部分解释了VA状态和VA生物利用度的个体间差异。然而，要确定与VA状态和生物利用度有关的所有SNP，并评估其他类型的遗传变异，如拷贝数变异和插入/缺失，在这些表型中的可能参与，仍有许多工作要做。然而，这一研究领域的潜在用处是令人兴奋的，因为在退伍军人中提出了更个性化的饮食建议，特别是在有维生素A缺乏风险的人群中。
Blood concentration of vitamin A (VA), which is present as different molecules, i.e., mainly retinol and provitamin A carotenoids, plus retinyl esters in the postprandial period after a VA-containing meal, is affected by numerous factors: dietary VA intake, VA absorption efficiency, efficiency of provitamin A carotenoid conversion to VA, VA tissue uptake, etc. Most of these factors are in turn modulated by genetic variations in genes encoding proteins involved in VA metabolism. Genome-wide association studies (GWAS) and candidate gene association studies have identified single nucleotide polymorphisms (SNPs) associated with blood concentrations of retinol and β-carotene, as well as with β-carotene bioavailability. These genetic variations likely explain, at least in part, interindividual variability in VA status and in VA bioavailability. However, much work remains to be done to identify all of the SNPs involved in VA status and bioavailability and to assess the possible involvement of other kinds of genetic variations, e.g., copy number variants and insertions/deletions, in these phenotypes. Yet, the potential usefulness of this area of research is exciting regarding the proposition of more personalized dietary recommendations in VA, particularly in populations at risk of VA deficiency.