Department of Modern Sciences and Technologies, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Student Research Committee, Mashhad University of Medical Sciences, Mashhad, Iran.
J Cell Physiol. 2018 May;233(5):4033-4043. doi: 10.1002/jcp.26216. Epub 2017 Nov 28.
The global prevalence of vitamin D deficiency appears to be increasing, and the impact of this on human health is important because of the association of vitamin D insufficiency with increased risk of osteoporosis, cardiovascular disease and some cancers. There are few studies on the genetic factors that can influence vitamin D levels. In particular, the data from twin and family-based studies have reported that circulating vitamin D concentrations are partially determined by genetic factors. Moreover, it has been shown that genetic variants (e.g., mutation) and alteration (e.g., deletion, amplification, inversion) in genes involved in the metabolism, catabolism, transport, or binding of vitamin D to it receptor, might affect vitamin D level. However, the underlying genetic determinants of plasma 25-hydroxyvitamin D3 [25(OH)D] concentrations remain to be elucidated. Furthermore, the association between epigenetic modifications such as DNA methylation and vitamin D level has now been reported in several studies. The aim of current review was to provide an overview of the possible value of loci associated to vitamin D metabolism, catabolism, and transport as well epigenetic modification and environmental factors influencing vitamin D status.
全球维生素 D 缺乏的患病率似乎正在上升，由于维生素 D 不足与骨质疏松症、心血管疾病和某些癌症风险增加有关，因此了解其对人类健康的影响很重要。关于影响维生素 D 水平的遗传因素的研究很少。特别是，来自双胞胎和基于家庭的研究的数据表明，循环维生素 D 浓度部分由遗传因素决定。此外，已经表明，涉及维生素 D 代谢、分解代谢、运输或与维生素 D 受体结合的基因中的遗传变异（例如突变）和改变（例如缺失、扩增、倒位）可能会影响维生素 D 水平。然而，血浆 25-羟维生素 D3 [25(OH)D] 浓度的潜在遗传决定因素仍有待阐明。此外，几项研究已经报道了 DNA 甲基化等表观遗传修饰与维生素 D 水平之间的关联。目前综述的目的是概述与维生素 D 代谢、分解代谢和运输以及影响维生素 D 状态的表观遗传修饰和环境因素相关的基因座的可能价值。
