Genetic Determinants of 25-Hydroxyvitamin D Concentrations and Their Relevance to Public Health.
Genetic Determinants of 25-Hydroxyvitamin D Concentrations and Their Relevance to Public Health.
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DOI：
10.3390/nu14204408
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发表时间：
2022-10-20
期刊：
影响因子：
5.9
通讯作者：
Zhou A
中科院分区：
文献类型：
--
作者：
Hyppönen E;Vimaleswaran KS;Zhou A
双胞胎研究表明，25-羟基维生素D（25（OH）D）浓度的变异性有相当大的遗传贡献，在一些研究中报告的遗传率估计高达80%。虽然全基因组关联研究（GWAS）表明发生率明显较低（13-16%），但他们已经确定了许多与血清25（OH）D浓度相关的独立变异。这些发现为代谢途径提供了一些新的见解，在这篇综述中，我们概述了迄今为止GWAS研究的结果，特别关注35种变体，这些变体在独立的大规模分析中提供了与25（OH）D相关的复制证据。一些25（OH）D相关变体与维生素D代谢途径直接相关，而另一些可能反映了储存能力，脂质代谢和反映皮肤特性的途径的差异。通过构建包括这些25（OH）D相关变体的遗传评分，我们发现25（OH）D浓度的遗传差异在整个季节持续存在，并且与最低的五分之一相比，维生素D遗传评分最高20%的个体具有低浓度（<50 nmol/L）的几率约为一半，这种影响可能对保持足够的水平有显着影响。我们还讨论了最近关于补充维生素D的个性化方法的研究，并展示了孟德尔随机化研究如何帮助告知公共卫生策略，以减少维生素D缺乏对健康的不利影响。
Twin studies suggest a considerable genetic contribution to the variability in 25-hydroxyvitamin D (25(OH)D) concentrations, reporting heritability estimates up to 80% in some studies. While genome-wide association studies (GWAS) suggest notably lower rates (13–16%), they have identified many independent variants that associate with serum 25(OH)D concentrations. These discoveries have provided some novel insight into the metabolic pathway, and in this review we outline findings from GWAS studies to date with a particular focus on 35 variants which have provided replicating evidence for an association with 25(OH)D across independent large-scale analyses. Some of the 25(OH)D associating variants are linked directly to the vitamin D metabolic pathway, while others may reflect differences in storage capacity, lipid metabolism, and pathways reflecting skin properties. By constructing a genetic score including these 25(OH)D associated variants we show that genetic differences in 25(OH)D concentrations persist across the seasons, and the odds of having low concentrations (<50 nmol/L) are about halved for individuals in the highest 20% of vitamin D genetic score compared to the lowest quintile, an impact which may have notable influences on retaining adequate levels. We also discuss recent studies on personalized approaches to vitamin D supplementation and show how Mendelian randomization studies can help inform public health strategies to reduce adverse health impacts of vitamin D deficiency.
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影响因子：
3.5
作者：
Ahn J;Yu K;Stolzenberg-Solomon R;Simon KC;McCullough ML;Gallicchio L;Jacobs EJ;Ascherio A;Helzlsouer K;Jacobs KB;Li Q;Weinstein SJ;Purdue M;Virtamo J;Horst R;Wheeler W;Chanock S;Hunter DJ;Hayes RB;Kraft P;Albanes D
通讯作者：
Albanes D
DOI：
10.1016/j.jsbmb.2010.06.013
发表时间：
2010-10
影响因子：
4.1
作者：
Engelman, Corinne D.;Meyers, Kristin J.;Ziegler, Julie T.;Taylor, Kent D.;Palmer, Nicholette D.;Haffner, Steven M.;Fingerlin, Tasha E.;Wagenknecht, Lynne E.;Rotter, Jerome I.;Bowden, Donald W.;Langefeld, Carl D.;Norris, Jill M.
通讯作者：
Norris, Jill M.
影响因子：
14.9
作者：
Buniello, Annalisa;MacArthur, Jacqueline A. L.;Parkinson, Helen
通讯作者：
Parkinson, Helen
影响因子：
16.2
作者：
Fossati, Matteo;Assendorp, Nora;Charrier, Cecile
通讯作者：
Charrier, Cecile
DOI：
10.1136/bmj.k601
发表时间：
2018-07-12
期刊：
BMJ (Clinical research ed.)
影响因子：
--
作者：
Davies NM;Holmes MV;Davey Smith G
通讯作者：
Davey Smith G