Division of Rheumatology, Department of Internal Medicine, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2350-Largo Eduardo Zaccaro Faraco, Sala 645, 6º andar, Porto Alegre 90035-903, Rio Grande do Sul, Brazil.
Clin Rheumatol. 2012 Oct;31(10):1411-21. doi: 10.1007/s10067-012-2021-5. Epub 2012 Jun 13.
The susceptibility for the development of systemic lupus erythematosus (SLE) is related to environmental, hormonal, genetic, and immunological factors. Numerous genes have been linked to the emergence of SLE, including vitamin D receptor (VDR) gene that synthesizes the receptor of vitamin D. Several polymorphisms have been described since the discovery of this gene, and their effects on VDR activity are still poorly understood. Vitamin D's biological functions are mediated by VDR. Vitamin D exerts many actions on the immune system, and several studies have suggested its role in the pathogenesis of autoimmune diseases. SLE patients have low blood levels of vitamin D, which raises the possibility of association between the deficiency of this vitamin and the onset of the disease. BsmI and FokI polymorphic variants seem to be related to the onset of the disease in Asian patients. In this article, we review the aspects related to the metabolism and immunoregulatory effects of vitamin D, VDR, and main polymorphisms involving the VDR gene and the relationship between vitamin D levels and its receptor with SLE.
系统性红斑狼疮（SLE）的易感性与环境、激素、遗传和免疫因素有关。许多基因与 SLE 的出现有关，包括合成维生素 D 受体（VDR）的维生素 D 受体基因。自该基因发现以来，已经描述了许多多态性，但其对 VDR 活性的影响仍知之甚少。维生素 D 的生物学功能是由 VDR 介导的。维生素 D 对免疫系统有许多作用，一些研究表明它在自身免疫性疾病的发病机制中起作用。SLE 患者血液中的维生素 D 水平较低，这增加了这种维生素缺乏与疾病发作之间存在关联的可能性。BsmI 和 FokI 多态性似乎与亚洲患者的发病有关。本文综述了维生素 D、VDR 的代谢和免疫调节作用以及涉及 VDR 基因的主要多态性及其与 SLE 之间的关系。
