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维生素D：从代谢到基因组效应的基因调控概述

Vitamin D: An Overview of Gene Regulation, Ranging from Metabolism to Genomic Effects.

机构信息

Department of Medicine (DIMED), University of Padova, Via Giustiniani 2, 35128 Padova, Italy.

Endocrinology Unit, Padova University Hospital, Via Ospedale Civile 105, 35128 Padova, Italy.

出版信息

Genes (Basel). 2023 Aug 25;14(9):1691. doi: 10.3390/genes14091691.

DOI:10.3390/genes14091691
PMID:37761831
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10531002/
Abstract

Vitamin D is a pro-hormone characterized by an intricate metabolism and regulation. It is well known for its role in calcium and phosphate metabolism, and in bone health. However, several studies have assessed a huge number of extra-skeletal functions, ranging from cell proliferation in some oncogenic pathways to antioxidant and immunomodulatory functions. Vitamin D exerts its role by binding to VDRs (vitamin D receptors), which are located in many different tissues. Moreover, VDRs are able to bind hundreds of genomic loci, modulating the expression of various primary target genes. Interestingly, plenty of gene polymorphisms regarding VDRs are described, each one carrying a potential influence against gene expression, with relapses in several chronic diseases and metabolic complications. In this review, we provide an overview of the genetic aspects of vitamin D and VDR, emphasizing the gene regulation of vitamin D, and the genetic modulation of VDR target genes. In addition, we briefly summarize the rare genetic disease linked to vitamin D metabolism.

摘要

维生素D是一种原激素，其代谢和调节过程错综复杂。它在钙和磷代谢以及骨骼健康方面的作用广为人知。然而，多项研究评估了大量的骨骼外功能，从某些致癌途径中的细胞增殖到抗氧化和免疫调节功能。维生素D通过与位于许多不同组织中的维生素D受体（VDR）结合来发挥作用。此外，VDR能够结合数百个基因组位点，调节各种主要靶基因的表达。有趣的是，关于VDR的大量基因多态性已被描述，每一种都对基因表达具有潜在影响，并与多种慢性疾病和代谢并发症的复发有关。在本综述中，我们概述了维生素D和VDR的遗传方面，强调了维生素D的基因调控以及VDR靶基因的遗传调节。此外，我们简要总结了与维生素D代谢相关的罕见遗传病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c94/10531002/fb4f9386042f/genes-14-01691-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c94/10531002/2c1b5e4f9a23/genes-14-01691-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c94/10531002/52b2691e1f05/genes-14-01691-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c94/10531002/fb4f9386042f/genes-14-01691-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c94/10531002/2c1b5e4f9a23/genes-14-01691-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c94/10531002/52b2691e1f05/genes-14-01691-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c94/10531002/fb4f9386042f/genes-14-01691-g003.jpg

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