Agliardi Cristina, Guerini Franca Rosa, Bolognesi Elisabetta, Zanzottera Milena, Clerici Mario
IRCCS Fondazione Don Carlo Gnocchi ONLUS, LAMMB, 20148 Milan, Italy.
Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.
Biology (Basel). 2023 Jun 26;12(7):916. doi: 10.3390/biology12070916.
The vitamin D/Vitamin D receptor (VDR) axis is crucial for human health as it regulates the expression of genes involved in different functions, including calcium homeostasis, energy metabolism, cell growth and differentiation, and immune responses. In particular, the vitamin D/VDR complex regulates genes of both innate and adaptive immunity. Autoimmune diseases are believed to arise from a genetic predisposition and the presence of triggers such as hormones and environmental factors. Among these, a role for Vitamin D and molecules correlated to its functions has been repeatedly suggested. Four single nucleotide polymorphisms (SNPs) of the gene, , , , and , in particular, have been associated with autoimmune disorders. The presence of particular SNP alleles and genotypes, thus, was observed to modulate the likelihood of developing diverse autoimmune conditions, either increasing or reducing it. In this work, we will review the scientific literature suggesting a role for these different factors in the pathogenesis of autoimmune conditions and summarize evidence indicating a possible SNP involvement in the onset of these diseases. A better understanding of the role of the molecular mechanisms linking Vitamin D/VDR and autoimmunity might be extremely useful in designing novel therapeutic avenues for these disorders.
维生素D/维生素D受体（VDR）轴对人类健康至关重要，因为它调节参与不同功能的基因表达，包括钙稳态、能量代谢、细胞生长和分化以及免疫反应。特别是，维生素D/VDR复合物调节先天性免疫和适应性免疫的基因。自身免疫性疾病被认为源于遗传易感性以及激素和环境因素等触发因素的存在。其中，维生素D及其相关功能分子的作用已被反复提及。特别是该基因的四个单核苷酸多态性（SNP），即 、 、 和 ，已与自身免疫性疾病相关联。因此，观察到特定SNP等位基因和基因型的存在会调节发生多种自身免疫性疾病的可能性，要么增加要么降低这种可能性。在这项工作中，我们将回顾科学文献，这些文献表明这些不同因素在自身免疫性疾病发病机制中的作用，并总结表明特定SNP可能参与这些疾病发病的证据。更好地理解连接维生素D/VDR与自身免疫的分子机制的作用，可能对设计针对这些疾病的新型治疗途径非常有用。
