维生素D受体基因多态性与系统性红斑狼疮研究进展

Progress in research on vitamin D receptor gene polymorphism and systemic lupus erythematosus

近年来人们对常见病的高危因素集中在基因研究方面,研究显示维生素D受体(VDR)存在多态性,但是VDR基因多态性对VDR蛋白质功能和信号通路的影响还不明确。目前,数个毗邻的限制性片段长度多态性如BsmI、ApaI、TaqI、FokI等与疾病的联系受到广泛关注,而VDR基因多态性的作用机理在自身免疫性疾病系统性红斑狼疮(systemic lupus erythematosus,SLE)、糖尿病及骨关节炎等方面知之甚少。本文就VDR多态性与SLE发病机制的研究及其进展进行综述。

Recently,researches on high risk factors of common diseases has been focused on gene.Although some studies showed that gene polymorphism existed in vitamin D receptor（VDR）,it was still obscure that VDR gene polymorphism had influence on protein function and signal pathway of VDR.The association between diseases and several adjoining restriction fragment length polymorphism（RFLP） such as BsmI,ApaI,TaqI and FokI received extensive attention.However,the mechanism of VDR gene polymorphism on autoimmune diseases（systemic lupus erythematosus,diabetes and osteoarthritis and so on） was not widely known.The interaction between VDR gene polymorphism and progress in studies on SLE is reviewed.