与维生素D和自身免疫相关的遗传变异的影响:系统性审查
Luisa Menezes Trefilio1,2, Letícia Bottino1,3, Rafaella de Carvalho Cardoso1,4
1Universidade Estadual do Rio de Janeiro, Instituto de Biologia Roberto Alcântara Gomes, Departamento de Farmacologia e Psicobiologia, Rio de Janeiro RJ, Brazil.
Heliyon
|May 1, 2024
概括
维生素D信号通路中的遗传变异与各种自身免疫性疾病有关. 这篇综述强调了像VDBP和VDR这样的关键基因,证实了它们与更广泛的自身免疫敏感性相关.
科学领域:
- 遗传学 是一个遗传学.
- 免疫学 免疫学 免疫学
- 内分泌学 在内分泌学.
背景情况:
- 越来越多的研究将维生素D信号与自身免疫性疾病的易感性联系起来.
- 现有的文献往往侧重于个体自身免疫性疾病,缺乏全面的概述.
- 了解遗传基础对于预测和管理自身免疫性疾病至关重要.
研究的目的:
- 系统地审查与维生素D信号和自身免疫性疾病相关的遗传变异.
- 分析当前关于维生素D遗传影响的自身免疫疾病的易感性和结果的证据.
- 确定关键的基因和变异,涉及维生素D途径在自身免疫中的作用.
主要方法:
- 对调查维生素D信号传递和自身免疫性疾病中的遗传变异的研究进行系统性文献综述.
- 分析了65项选定的研究,以确定常被引用的遗传变异.
- 专注于关键基因中的变异,例如VDBP,CYP2R1,CYP27B1和VDR.
主要成果:
- 证实了维生素D信号通路中的几种遗传变异与广泛的自身免疫性疾病和特征之间的关联.
- 在VDBP (rs2282679),CYP2R1 (rs10751657),CYP27B1 (rs10877012) 和VDR (FokI, BsmI, ApaI, TaqI) 中发现了经常引用的特定变异.
- 该审查涵盖了65项研究,突出显示VDR基因变异特别突出.
结论:
- 维生素D信号通路中的遗传变异与对广泛自身免疫性疾病的易感性有显著的关联.
- 建议进行进一步的功能研究,以阐明这些变体影响维生素D信号和自身免疫的确切机制.
- 这些发现强调了遗传因素对维生素D在免疫系统调节和自身免疫性疾病发展中的作用的重要性.
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