Trefilio Luisa Menezes, Bottino Letícia, de Carvalho Cardoso Rafaella, Montes Guilherme Carneiro, Fontes-Dantas Fabrícia Lima
Universidade Estadual do Rio de Janeiro, Instituto de Biologia Roberto Alcântara Gomes, Departamento de Farmacologia e Psicobiologia, Rio de Janeiro RJ, Brazil.
Universidade Federal do Estado do Rio de Janeiro, Instituto Biomédico, Rio de Janeiro RJ, Brazil.
Heliyon. 2024 Mar 21;10(7):e27700. doi: 10.1016/j.heliyon.2024.e27700. eCollection 2024 Apr 15.
Over the past few years, there has been a notable increment in scientific literature aimed at unraveling the genetic foundations of vitamin D signaling and its implications for susceptibility to autoimmunity, however, most of them address isolated diseases. Here, we conducted a systematic review of genetic variants related to vitamin D and autoimmune diseases and we discussed the current landscape of susceptibility and outcomes. Of 65 studies analyzed, most variants cited are in vitamin D binding protein (; rs2282679 GC gene), 25-hydroxylase (rs10751657 ), 1α-hydroxylase (rs10877012, ) and the nuclear hormone receptor superfamily [I (rs2228570), I (rs1544410), I (rs7975232), and I (rs731236) in gene]. Therefore, our findings confirmed the associations of several genetic variants of vitamin D signaling with a broad spectrum of autoimmune diseases/traits. In addition, given the low number of papers found with functional analysis, further studies to elucidate the real effect that the variants exert on Vitamin D signaling are recommended.
在过去几年中，旨在揭示维生素D信号传导的遗传基础及其对自身免疫易感性影响的科学文献显著增加，然而，其中大多数研究仅针对单一疾病。在此，我们对与维生素D和自身免疫性疾病相关的基因变异进行了系统综述，并探讨了当前易感性和疾病结局的研究现状。在所分析的65项研究中，大多数提及的变异位于维生素D结合蛋白（rs2282679，GC基因）、25-羟化酶（rs10751657）、1α-羟化酶（rs10877012）以及核激素受体超家族[维生素D受体基因中的I（rs2228570）、I（rs1544410）、I（rs7975232）和I（rs731236）]。因此，我们的研究结果证实了维生素D信号传导的多个基因变异与多种自身免疫性疾病/特征之间的关联。此外，鉴于发现的进行功能分析的论文数量较少，建议进一步开展研究以阐明这些变异对维生素D信号传导的实际影响。
