Grupo de Inmunonutrición y Genómica Nutricional en las Enfermedades Autoinmunes, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara Jalisco 44160, Mexico.
Instituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara Jalisco 44340, Mexico.
Int J Mol Sci. 2020 Dec 17;21(24):9626. doi: 10.3390/ijms21249626.
A high prevalence of vitamin D (calcidiol) serum deficiency has been described in several autoimmune diseases, including multiple sclerosis (MS), rheumatoid arthritis (AR), and systemic lupus erythematosus (SLE). Vitamin D is a potent immunonutrient that through its main metabolite calcitriol, regulates the immunomodulation of macrophages, dendritic cells, T and B lymphocytes, which express the vitamin D receptor (VDR), and they produce and respond to calcitriol. Genetic association studies have shown that up to 65% of vitamin D serum variance may be explained due to genetic background. The 90% of genetic variability takes place in the form of single nucleotide polymorphisms (SNPs), and SNPs in genes related to vitamin D metabolism have been linked to influence the calcidiol serum levels, such as in the vitamin D binding protein (VDBP; rs2282679 ), 25-hydroxylase (rs10751657 ), 1α-hydroxylase (rs10877012, ) and the vitamin D receptor ( (rs2228570), (rs1544410), (rs7975232), and (rs731236) . Therefore, the aim of this comprehensive literature review was to discuss the current findings of functional SNPs in , , , and associated to genetic risk, and the most common clinical features of MS, RA, and SLE.
在多种自身免疫性疾病中，包括多发性硬化症（MS）、类风湿关节炎（RA）和系统性红斑狼疮（SLE），都描述了维生素 D（钙二醇）血清缺乏的高发率。维生素 D 是一种有效的免疫营养素，通过其主要代谢产物 1,25-二羟维生素 D3（calcitriol），调节巨噬细胞、树突状细胞、T 和 B 淋巴细胞的免疫调节，这些细胞表达维生素 D 受体（VDR），并产生和响应 calcitriol。遗传关联研究表明，高达 65%的维生素 D 血清变异可能由于遗传背景而得到解释。90%的遗传变异性以单核苷酸多态性（SNPs）的形式发生，与维生素 D 代谢相关的基因中的 SNPs 已被证明会影响钙二醇血清水平，例如维生素 D 结合蛋白（VDBP；rs2282679）、25-羟化酶（rs10751657）、1α-羟化酶（rs10877012）和维生素 D 受体（rs2228570、rs1544410、rs7975232 和 rs731236）。因此，本综述的目的是讨论与遗传风险相关的 VDBP、CYP27B1、CYP24A1 和 VDR 中功能 SNPs 的当前发现，以及 MS、RA 和 SLE 的最常见临床特征。
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