Abouzid Mohamed, Główka Franciszek, Kagan Leonid, Karaźniewicz-Łada Marta
Department of Physical Pharmacy and Pharmacokinetics, Poznan University of Medical Sciences, Poznan, Poland.
Department of Pharmaceutics, Ernest Mario School of Pharmacy, Rutgers, The State University of New Jersey, Piscataway, NJ, United States.
Curr Drug Metab. 2022;23(8):630-651. doi: 10.2174/1389200223666220627104139.
Vitamin D is a fat-soluble vitamin, and it is a potential key factor in maintaining a healthy status. Various observational studies have reported the association between vitamin D deficiency and an elevated risk of osteoporosis, cardiovascular disease, diabetes mellitus, and certain types of cancer. The number of studies that investigates the genetic determinants of vitamin D hydroxy metabolism has been growing. Still, its association with the genetic variants remains unclear, particularly those genes related to vitamin D metabolism.
This work is a comprehensive review of available evidence of the effect of genetic variants on vitamin D metabolism and their impact on vitamin D status in the human body, disorders including coronavirus disease 2019 infection, and its importance for clinical investigators and public health.
Genome-wide association studies and candidate gene studies show that genetic factors are influencing the circulating levels of vitamin D. These genetic changes are implicated in various pathways of vitamin D, such as metabolism and transport. It is also involved in the formation of the ternary complex (vitamin D receptor - retinoid receptor - transcription factor II B).
Linkage studies may fail to identify replicated genetic architecture of vitD metabolism. Genome-wide association studies and the candidate gene approach have shown reproducible influences of gene control on vitD status.
维生素D是一种脂溶性维生素，是维持健康状态的潜在关键因素。多项观察性研究报告了维生素D缺乏与骨质疏松症、心血管疾病、糖尿病和某些类型癌症风险升高之间的关联。研究维生素D羟基代谢遗传决定因素的研究数量一直在增加。然而，其与基因变异的关联仍不明确，尤其是那些与维生素D代谢相关的基因。
这项工作是对基因变异对维生素D代谢的影响及其对人体维生素D状态、包括2019冠状病毒病感染在内的疾病的影响的现有证据的全面综述，以及其对临床研究人员和公共卫生的重要性。
全基因组关联研究和候选基因研究表明，遗传因素正在影响维生素D的循环水平。这些基因变化涉及维生素D的各种途径，如代谢和运输。它还参与三元复合物（维生素D受体 - 类视黄醇受体 - 转录因子II B）的形成。
连锁研究可能无法识别维生素D代谢的重复遗传结构。全基因组关联研究和候选基因方法已显示基因控制对维生素D状态具有可重复的影响。
